#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A			Somatic				SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	WXS	Illumina GAIIx	Phase_I	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	7	144	0	0	0	1	0	7	144				
MYH3	4621	broad.mit.edu	37	17	10543475	10543475	+	Silent	SNP	G	G	A	rs565057862	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:10543475G>A	ENST00000583535.1	-	22	2607	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L	MYH3_ENST00000226209.7_Silent_p.L840L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	840					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACTCTTGAGGAGGGGCTTGA	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		18237	0.0		0.0	False		,,,				2504	0.002					ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(2518-2520)ctC>ctT		myosin, heavy chain 3, skeletal muscle, embryonic							140.0	130.0	133.0					17																	10543475		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543475G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2520C>T	17.37:g.10543475G>A			Somatic				MYH3_ENST00000226209.7_Silent_p.L840L	p.L840L	NM_002470.3	NP_002461.2	WXS	Illumina GAIIx	Phase_I	P11055	MYH3_HUMAN			22	2607	-			840					Q15492	Silent	SNP	ENST00000583535.1	37	c.2520C>T	CCDS11157.1																																																																																				0.473	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		24	215	0	0	0	1	0	24	215				
ZNF532	55205	broad.mit.edu	37	18	56586710	56586710	+	Silent	SNP	G	G	A	rs376423868		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr18:56586710G>A	ENST00000336078.4	+	4	1967	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	ZNF532_ENST00000589288.1_Silent_p.A397A|ZNF532_ENST00000591230.1_Silent_p.A397A|ZNF532_ENST00000591083.1_Silent_p.A397A|ZNF532_ENST00000591808.1_Silent_p.A397A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGCAGACAGCGTCCGTGATGG	0.552																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1189-1191)gcG>gcA		zinc finger protein 532		G		1,4405	2.1+/-5.4	0,1,2202	49.0	46.0	47.0		1191	-4.8	0.0	18		47	0,8600		0,0,4300	no	coding-synonymous	ZNF532	NM_018181.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		397/1302	56586710	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586710G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1191G>A	18.37:g.56586710G>A			Somatic				ZNF532_ENST00000589288.1_Silent_p.A397A|ZNF532_ENST00000591083.1_Silent_p.A397A|ZNF532_ENST00000591808.1_Silent_p.A397A|ZNF532_ENST00000591230.1_Silent_p.A397A	p.A397A	NM_018181.4	NP_060651.2	WXS	Illumina GAIIx	Phase_I	Q9HCE3	ZN532_HUMAN			4	1967	+			397					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.1191G>A	CCDS11969.1																																																																																				0.552	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		3	139	0	0	0	1	0	3	139				
C9orf116	138162	broad.mit.edu	37	9	138387324	138387324	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr9:138387324C>T	ENST00000429260.2	-	3	380	c.360G>A	c.(358-360)cgG>cgA	p.R120R	C9orf116_ENST00000371789.3_3'UTR|C9orf116_ENST00000371791.1_3'UTR	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	120															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GGAAGTTGAGCCGGTCACAGG	0.542																																						ENST00000429260.2																			0											c.(358-360)cgG>cgA		chromosome 9 open reading frame 116							211.0	182.0	192.0					9																	138387324		2203	4300	6503	SO:0001819	synonymous_variant	138162							g.chr9:138387324C>T	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.360G>A	9.37:g.138387324C>T			Somatic				C9orf116_ENST00000371789.3_3'UTR|C9orf116_ENST00000371791.1_3'UTR	p.R120R	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	WXS	Illumina GAIIx	Phase_I	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	3	380	-			120					Q5T897|Q8WU44	Silent	SNP	ENST00000429260.2	37	c.360G>A	CCDS43899.1																																																																																				0.542	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		3	59	0	0	0	1	0	3	59				
ANP32A	8125	broad.mit.edu	37	15	69080254	69080254	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:69080254T>C	ENST00000465139.2	-	2	202	c.59A>G	c.(58-60)aAa>aGa	p.K20R	ANP32A_ENST00000560303.1_Missense_Mutation_p.K20R|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	20					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GACAAGTTCTTTCACCTGAAA	0.522																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(58-60)aAa>aGa		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							111.0	115.0	114.0					15																	69080254		2200	4298	6498	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69080254T>C	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.59A>G	15.37:g.69080254T>C	ENSP00000417864:p.Lys20Arg		Somatic				ANP32A_ENST00000560303.1_Missense_Mutation_p.K20R|ANP32A_ENST00000483551.2_5'UTR	p.K20R	NM_006305.3	NP_006296.1	WXS	Illumina GAIIx	Phase_I	P39687	AN32A_HUMAN			2	202	-			20					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.59A>G	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067842	0.76301	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.00457	7.29	5.47	5.47	0.80525	.	0.082312	0.85682	D	0.000000	T	0.00356	0.0011	L	0.31294	0.92	0.80722	D	1	B	0.30236	0.274	B	0.27262	0.078	T	0.81640	-0.0841	10	0.19590	T	0.45	.	14.7231	0.69323	0.0:0.0:0.0:1.0	.	20	P39687	AN32A_HUMAN	R	20	ENSP00000417864:K20R	ENSP00000350970:K20R	K	-	2	0	ANP32A	66867308	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.050000	0.71063	2.078000	0.62432	0.459000	0.35465	AAA		0.522	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			3	187	0	0	0	1	0	3	187				
LRRCC1	85444	broad.mit.edu	37	8	86038966	86038966	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr8:86038966A>G	ENST00000360375.3	+	9	1464	c.1315A>G	c.(1315-1317)Aga>Gga	p.R439G	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R419G	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	439					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAGAGATGGAGAGCTGAGCA	0.388																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1255-1257)Aga>Gga		leucine rich repeat and coiled-coil centrosomal protein 1							73.0	72.0	72.0					8																	86038966		1874	4104	5978	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86038966A>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1315A>G	8.37:g.86038966A>G	ENSP00000353538:p.Arg439Gly		Somatic				LRRCC1_ENST00000360375.3_Missense_Mutation_p.R439G	p.R419G			WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			8	2144	+			439					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1255A>G	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561289	0.65538	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.30182	1.54;1.54	5.56	5.56	0.83823	.	0.198026	0.25068	N	0.033393	T	0.20414	0.0491	N	0.08118	0	0.40608	D	0.981644	B;B;B;B	0.27679	0.152;0.185;0.152;0.087	B;B;B;B	0.29862	0.023;0.108;0.051;0.048	T	0.12372	-1.0550	10	0.66056	D	0.02	-24.9104	15.3768	0.74610	1.0:0.0:0.0:0.0	.	346;419;346;439	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	G	439;419	ENSP00000353538:R439G;ENSP00000394695:R419G	ENSP00000353538:R439G	R	+	1	2	LRRCC1	86226218	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.253000	0.78320	2.127000	0.65507	0.533000	0.62120	AGA		0.388	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		3	73	0	0	0	1	0	3	73				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T			Somatic				CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	10	696	0	0	0	1	0	10	696				
ATRNL1	26033	broad.mit.edu	37	10	116925316	116925316	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:116925316A>T	ENST00000355044.3	+	7	1130		c.e7-1		ATRNL1_ENST00000529665.1_Splice_Site|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTGCTTTTAGTTACAATTT	0.328																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e7-1		attractin-like 1							69.0	69.0	69.0					10																	116925316		2203	4296	6499	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:116925316A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1005-1A>T	10.37:g.116925316A>T			Somatic				ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site		NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1130	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37		CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375796	0.82682	.	.	ENSG00000107518	ENST00000355044	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8897	0.79286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	116915306	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.784000	0.91818	2.150000	0.67090	0.528000	0.53228	.		0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	8	250	0	0	0	1	0	8	250				
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:11485944A>T	ENST00000423059.4	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2806-2808)agT>agA		thrombospondin, type I, domain containing 7A							127.0	124.0	125.0					7																	11485944		1798	4072	5870	SO:0001583	missense	221981					integral to membrane		g.chr7:11485944A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2808T>A	7.37:g.11485944A>T	ENSP00000406482:p.Ser936Arg	HNSCC(18;0.044)	Somatic				AC004538.3_ENST00000445839.1_RNA	p.S936R	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3059	-			936			TSP type-1 9.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2808T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925251	0.73213	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61040	0.14	5.74	0.842	0.18927	.	0.035332	0.85682	D	0.000000	T	0.68979	0.3060	M	0.75615	2.305	0.58432	D	0.99999	D	0.71674	0.998	D	0.77557	0.99	T	0.65450	-0.6165	10	0.24483	T	0.36	.	9.7422	0.40424	0.7303:0.0:0.2697:0.0	.	936	Q9UPZ6	THS7A_HUMAN	R	936	ENSP00000406482:S936R	ENSP00000262042:S936R	S	-	3	2	THSD7A	11452469	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.480000	0.22244	0.432000	0.26286	0.482000	0.46254	AGT		0.338	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		6	564	0	0	0	1	0	6	564				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.e4-1		actin related protein 2/3 complex, subunit 2, 34kDa							101.0	105.0	103.0					2																	219099073		2203	4299	6502	SO:0001630	splice_region_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099073A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.223-1A>T	2.37:g.219099073A>T			Somatic				ARPC2_ENST00000315717.5_Splice_Site		NM_005731.2	NP_005722.1	WXS	Illumina GAIIx	Phase_I	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	483	+		Renal(207;0.0474)						Q92801|Q9P1D4	Splice_Site	SNP	ENST00000295685.10	37		CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758264	0.69763	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC2	218807318	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	7.690000	0.84178	2.281000	0.76405	0.533000	0.62120	.		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Intron	4	161	0	0	0	1	0	4	161				
NMT2	9397	broad.mit.edu	37	10	15174860	15174860	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_ENST00000540259.1_Silent_p.V37V|NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	225					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(673-675)gtC>gtT		N-myristoyltransferase 2							89.0	88.0	88.0					10																	15174860		2203	4300	6503	SO:0001819	synonymous_variant	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15174860G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.675C>T	10.37:g.15174860G>A			Somatic				NMT2_ENST00000378150.1_Silent_p.V212V|NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000540259.1_Silent_p.V37V|RPP38_ENST00000451677.1_Intron	p.V225V	NM_004808.2	NP_004799.1	WXS	Illumina GAIIx	Phase_I	O60551	NMT2_HUMAN			6	755	-			225					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	37	c.675C>T	CCDS7109.1																																																																																				0.458	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		3	196	0	0	0	1	0	3	196				
IL1B	3553	broad.mit.edu	37	2	113591112	113591112	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:113591112C>T	ENST00000263341.2	-	4	350	c.140G>A	c.(139-141)gGc>gAc	p.G47D	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TAGCTGGATGCCGCCATCCAG	0.612																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(139-141)gGc>gAc		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						90.0	85.0	87.0					2																	113591112		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591112C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.140G>A	2.37:g.113591112C>T	ENSP00000263341:p.Gly47Asp		Somatic				IL1B_ENST00000491056.1_5'UTR	p.G47D	NM_000576.2	NP_000567.1	WXS	Illumina GAIIx	Phase_I	P01584	IL1B_HUMAN			4	350	-			47					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.140G>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797577	0.31777	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.72	3.84	0.44239	Interleukin-1 propeptide (1);	0.608009	0.19187	N	0.120512	T	0.39253	0.1071	L	0.55103	1.725	0.30122	N	0.805631	P	0.44044	0.825	B	0.42625	0.393	T	0.43605	-0.9381	10	0.52906	T	0.07	-10.4574	8.9932	0.36037	0.0:0.8989:0.0:0.1011	.	47	P01584	IL1B_HUMAN	D	47	ENSP00000263341:G47D;ENSP00000407219:G47D;ENSP00000409680:G47D;ENSP00000400854:G47D	ENSP00000263341:G47D	G	-	2	0	IL1B	113307583	0.070000	0.21116	0.698000	0.30274	0.259000	0.26198	0.082000	0.14847	1.361000	0.45981	0.555000	0.69702	GGC		0.612	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		4	311	0	0	0	1	0	4	311				
NXF5	55998	broad.mit.edu	37	X	101095848	101095848	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:101095848C>A	ENST00000361708.2	-	9	859	c.500G>T	c.(499-501)tGc>tTc	p.C167F	NXF5_ENST00000473265.2_Missense_Mutation_p.C167F|NXF5_ENST00000537026.1_Missense_Mutation_p.C167F			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	167					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTTGTTGTTGCACAAGTTCAA	0.483																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(499-501)tGc>tTc		nuclear RNA export factor 5							108.0	91.0	97.0					X																	101095848		2201	4299	6500	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101095848C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.500G>T	X.37:g.101095848C>A	ENSP00000355286:p.Cys167Phe		Somatic				NXF5_ENST00000473265.2_Missense_Mutation_p.C167F|NXF5_ENST00000361708.2_Missense_Mutation_p.C167F	p.C167F	NM_032946.2	NP_116564.2	WXS	Illumina GAIIx	Phase_I	Q9H1B4	NXF5_HUMAN			9	859	-			167					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.500G>T		.	.	.	.	.	.	.	.	.	.	.	13.93	2.384694	0.42308	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.50548	0.74;0.74;0.74	2.05	-2.24	0.06909	.	0.385155	0.26366	U	0.024781	T	0.29882	0.0747	L	0.38175	1.15	0.22710	N	0.998826	P	0.36483	0.555	B	0.36719	0.231	T	0.17137	-1.0379	10	0.72032	D	0.01	.	4.0339	0.09721	0.0:0.4121:0.1806:0.4073	.	167	A2RRM0	.	F	167	ENSP00000442401:C167F;ENSP00000426978:C167F;ENSP00000355286:C167F	ENSP00000263032:C167F	C	-	2	0	NXF5	100982504	0.014000	0.17966	0.000000	0.03702	0.639000	0.38242	1.189000	0.32114	-0.823000	0.04301	0.267000	0.19312	TGC		0.483	NXF5-201	KNOWN	basic	protein_coding	protein_coding				110	143	1	0	5.63745e-77	1	6.03727e-77	110	143				
CNPPD1	27013	broad.mit.edu	37	2	220040313	220040313	+	Splice_Site	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:220040313C>T	ENST00000409789.1	-	4	687	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	FAM134A_ENST00000430297.2_5'Flank|CNPPD1_ENST00000360507.5_Splice_Site_p.R87Q			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	87					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCAGGCTCACCGGGACACATG	0.463																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.e4+1		cyclin Pas1/PHO80 domain containing 1							153.0	166.0	162.0					2																	220040313		2203	4300	6503	SO:0001630	splice_region_variant	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220040313C>T	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.260+1G>A	2.37:g.220040313C>T			Somatic				CNPPD1_ENST00000360507.5_Splice_Site_p.R87_splice	p.R87_splice			WXS	Illumina GAIIx	Phase_I	Q9BV87	CNPD1_HUMAN			4	687	-			87					B2RC77|O75548|Q9H4N0|Q9UQN0	Splice_Site	SNP	ENST00000409789.1	37	c.260_splice	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083876	0.94050	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.44083	0.93;0.93;0.93	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76788	-0.2830	9	.	.	.	-8.5479	15.592	0.76537	0.0:1.0:0.0:0.0	.	87	Q9BV87	CNPD1_HUMAN	Q	87	ENSP00000353698:R87Q;ENSP00000386277:R87Q;ENSP00000410109:R87Q	.	R	-	2	0	CNPPD1	219748557	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.690000	0.74567	1.885000	0.54596	0.563000	0.77884	CGG		0.463	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680	Missense_Mutation	3	188	0	0	0	1	0	3	188				
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:79616605C>G	ENST00000296739.4	+	1	816	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	191	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(571-573)Cag>Gag		spermatogenic leucine zipper 1							80.0	73.0	75.0					5																	79616605		1823	4086	5909	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616605C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.571C>G	5.37:g.79616605C>G	ENSP00000369611:p.Gln191Glu		Somatic					p.Q191E	NM_032567.3	NP_115956.3	WXS	Illumina GAIIx	Phase_I	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	816	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	191					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.571C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896756	0.02472	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.37235	1.21;1.75	3.72	1.88	0.25563	.	0.620126	0.14328	N	0.326540	T	0.09862	0.0242	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35276	-0.9795	10	0.02654	T	1	-1.396	4.8081	0.13329	0.2072:0.3907:0.4021:0.0	.	191	Q9BXG8	SPZ1_HUMAN	E	191	ENSP00000426530:Q191E;ENSP00000369611:Q191E	ENSP00000369611:Q191E	Q	+	1	0	SPZ1	79652361	0.003000	0.15002	0.011000	0.14972	0.387000	0.30353	0.012000	0.13287	0.186000	0.20125	-0.319000	0.08680	CAG		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		5	198	0	0	0	1	0	5	198				
SPRED3	399473	broad.mit.edu	37	19	38881011	38881011	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:38881011C>T	ENST00000338502.4	+	1	172	c.69C>T	c.(67-69)ggC>ggT	p.G23G	SPRED3_ENST00000586301.1_Silent_p.G23G|SPRED3_ENST00000587013.1_Intron|GGN_ENST00000591809.1_5'Flank|GGN_ENST00000334928.6_5'Flank|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	23	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGTGGGGGGCGGGGGCCTCA	0.726																																						ENST00000338502.4																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(67-69)ggC>ggT		sprouty-related, EVH1 domain containing 3							15.0	17.0	16.0					19																	38881011		1996	4146	6142	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38881011C>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.69C>T	19.37:g.38881011C>T			Somatic				SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Silent_p.G23G	p.G23G	NM_001042522.1	NP_001035987.1	WXS	Illumina GAIIx	Phase_I	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	172	+	all_cancers(60;3.4e-06)		23			WH1.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.69C>T	CCDS42560.1																																																																																				0.726	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		4	41	0	0	0	1	0	4	41				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		3	39	0	0	0	1	0	3	39				
WDR3	10885	broad.mit.edu	37	1	118493455	118493455	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:118493455A>T	ENST00000349139.5	+	16	1793		c.e16-1			NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTGATGTTTAGTTTTTTCTG	0.269																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.e16-1		WD repeat domain 3							193.0	191.0	191.0					1																	118493455		2202	4299	6501	SO:0001630	splice_region_variant	10885					nuclear membrane|nucleolus		g.chr1:118493455A>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1747-1A>T	1.37:g.118493455A>T			Somatic						NM_006784.2	NP_006775.1	WXS	Illumina GAIIx	Phase_I	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	16	1793	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)							Splice_Site	SNP	ENST00000349139.5	37		CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852063	0.71719	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3077	0.66395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118294978	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	8.484000	0.90445	2.163000	0.67991	0.455000	0.32223	.		0.269	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	Intron	7	119	0	0	0	1	0	7	119				
TTN	7273	broad.mit.edu	37	2	179449496	179449496	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:179449496C>T	ENST00000591111.1	-	260	60173	c.59949G>A	c.(59947-59949)ctG>ctA	p.L19983L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.L21624L|TTN_ENST00000342992.6_Silent_p.L19056L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.L12751L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L12684L|TTN_ENST00000460472.2_Silent_p.L12559L|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19983	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGGGATCAGCTTTCCAA	0.498																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64870-64872)ctG>ctA		titin							181.0	180.0	180.0					2																	179449496		1931	4132	6063	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449496C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59949G>A	2.37:g.179449496C>T			Somatic				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.L12684L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.L19056L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.L19983L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.L12751L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L12559L|TTN-AS1_ENST00000589907.1_RNA	p.L21624L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	65096	-			19983			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.64872G>A																																																																																					0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	391	0	0	0	1	0	5	391				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T			Somatic				ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	354	0	0	0	1	0	4	354				
WARS2	10352	broad.mit.edu	37	1	119576009	119576009	+	Intron	SNP	T	T	A	rs572880016	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:119576009T>A	ENST00000235521.4	-	6	661				WARS2_ENST00000369426.5_Missense_Mutation_p.M213L|WARS2_ENST00000537870.1_Intron	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AACACACACATACCCAAAACA	0.393																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(637-639)Atg>Ttg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						115.0	117.0	116.0					1																	119576009		2203	4300	6503	SO:0001627	intron_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119576009T>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.635-27A>T	1.37:g.119576009T>A			Somatic				WARS2_ENST00000537870.1_Intron|WARS2_ENST00000235521.4_Intron	p.M213L			WXS	Illumina GAIIx	Phase_I	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	640	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	0					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.637A>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	7.236	0.600310	0.13939	.	.	ENSG00000116874	ENST00000369426	T	0.40225	1.04	3.78	-7.56	0.01322	.	.	.	.	.	T	0.10035	0.0246	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20874	-1.0262	9	0.56958	D	0.05	.	16.7624	0.85515	0.0:0.1518:0.0:0.8482	.	213	B1ALR1	.	L	213	ENSP00000358434:M213L	ENSP00000358434:M213L	M	-	1	0	WARS2	119377532	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.196000	0.17176	-2.502000	0.00509	-0.969000	0.02612	ATG		0.393	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		6	305	0	0	0	1	0	6	305				
OR8H2	390151	broad.mit.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	A	G	rs61746549	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:55872537A>G	ENST00000313503.1	+	1	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N7D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438										HNSCC(53;0.14)			N|||	4	0.000798722	0.0008	0.0014	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.002					ENST00000313503.1																			1	Substitution - Missense(1)	p.N7D(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(19-21)Aac>Gac		olfactory receptor, family 8, subfamily H, member 2							196.0	187.0	190.0					11																	55872537		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872537A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.19A>G	11.37:g.55872537A>G	ENSP00000323982:p.Asn7Asp	HNSCC(53;0.14)	Somatic					p.N7D	NM_001005200.1	NP_001005200.1	WXS	Illumina GAIIx	Phase_I	Q8N162	OR8H2_HUMAN			1	19	+	Esophageal squamous(21;0.00693)		7					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.19A>G	CCDS31518.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	7.027	0.559788	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.00509	6.91	3.74	-2.34	0.06704	.	1.169330	0.06223	N	0.687064	T	0.00300	0.0009	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.30854	T	0.27	.	0.2174	0.00164	0.3775:0.1477:0.1868:0.288	rs61746549	7	Q8N162	OR8H2_HUMAN	D	7	ENSP00000323982:N7D	ENSP00000323982:N7D	N	+	1	0	OR8H2	55629113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.679000	0.01940	-0.566000	0.06054	-1.639000	0.00775	AAC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		6	665	0	0	0	1	0	6	665				
NEUROD4	58158	broad.mit.edu	37	12	55420617	55420617	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:55420617G>A	ENST00000242994.3	+	2	772	c.394G>A	c.(394-396)Gcc>Acc	p.A132T		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	132	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A132T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCTTAGACTGGCCAGGAACTA	0.502																																						ENST00000242994.3																			1	Substitution - Missense(1)	p.A132T(1)	endometrium(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(394-396)Gcc>Acc		neuronal differentiation 4							79.0	82.0	81.0					12																	55420617		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420617G>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.394G>A	12.37:g.55420617G>A	ENSP00000242994:p.Ala132Thr		Somatic					p.A132T	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	772	+			132			Helix-loop-helix motif.		B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.394G>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978788	0.92982	.	.	ENSG00000123307	ENST00000242994	D	0.99422	-5.88	5.7	5.7	0.88788	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98510	1.0618	10	0.87932	D	0	-33.892	17.7138	0.88330	0.0:0.0:1.0:0.0	.	132	Q9HD90	NDF4_HUMAN	T	132	ENSP00000242994:A132T	ENSP00000242994:A132T	A	+	1	0	NEUROD4	53706884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GCC		0.502	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			4	293	0	0	0	1	0	4	293				
UBXN2B	137886	broad.mit.edu	37	8	59359995	59359995	+	Missense_Mutation	SNP	C	C	T	rs565655095		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr8:59359995C>T	ENST00000399598.2	+	8	1003	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	294	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CCTGAATTTGCGGCTCTTGAC	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		14699	0.001		0.0	False		,,,				2504	0.0					ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(880-882)gCg>gTg		UBX domain protein 2B							102.0	89.0	93.0					8																	59359995		1825	4087	5912	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59359995C>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.881C>T	8.37:g.59359995C>T	ENSP00000382507:p.Ala294Val		Somatic					p.A294V	NM_001077619.1	NP_001071087.1	WXS	Illumina GAIIx	Phase_I	Q14CS0	UBX2B_HUMAN			8	1003	+			294			UBX.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.881C>T	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704782	0.88924	.	.	ENSG00000215114	ENST00000399598	T	0.44482	0.92	6.08	6.08	0.98989	UBX (3);	0.000000	0.44483	U	0.000449	T	0.65831	0.2729	M	0.72118	2.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.64050	-0.6498	10	0.54805	T	0.06	-2.5386	18.844	0.92196	0.0:1.0:0.0:0.0	.	294	Q14CS0	UBX2B_HUMAN	V	294	ENSP00000382507:A294V	ENSP00000382507:A294V	A	+	2	0	UBXN2B	59522549	1.000000	0.71417	0.972000	0.41901	0.393000	0.30537	6.947000	0.75959	2.894000	0.99253	0.655000	0.94253	GCG		0.348	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		3	193	0	0	0	1	0	3	193				
ECSIT	51295	broad.mit.edu	37	19	11617057	11617057	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:11617057G>A	ENST00000270517.7	-	8	1373	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.P199L|ECSIT_ENST00000252440.7_3'UTR|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000591352.1_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000593191.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	413					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTGGTCCTCGGGCAGGGGCGG	0.701																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(1237-1239)cCc>cTc		ECSIT signalling integrator							34.0	35.0	34.0					19																	11617057		2176	4265	6441	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11617057G>A	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1238C>T	19.37:g.11617057G>A	ENSP00000270517:p.Pro413Leu		Somatic				ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.P199L|ECSIT_ENST00000252440.7_3'UTR	p.P413L	NM_016581.4	NP_057665.2	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			8	1373	-			413					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.1238C>T	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609658	0.28623	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.29397	1.57;1.57	4.37	-2.32	0.06745	.	2.778290	0.01093	N	0.005226	T	0.24198	0.0586	L	0.51422	1.61	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.09640	-1.0665	10	0.27082	T	0.32	-1.6588	1.3375	0.02148	0.1975:0.3158:0.3238:0.163	.	199;413	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	L	413;199	ENSP00000270517:P413L;ENSP00000412712:P199L	ENSP00000270517:P413L	P	-	2	0	ECSIT	11478057	0.083000	0.21467	0.000000	0.03702	0.016000	0.09150	1.751000	0.38339	-0.041000	0.13558	0.585000	0.79938	CCC		0.701	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		18	39	0	0	0	1	0	18	39				
SLC9A7	84679	broad.mit.edu	37	X	46502800	46502800	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:46502800G>A	ENST00000328306.4	-	12	1509	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	495					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATGGCCAACGCAAATGCCAT	0.493																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(1483-1485)gCg>gTg		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							80.0	53.0	62.0					X																	46502800		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46502800G>A	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1484C>T	X.37:g.46502800G>A	ENSP00000330320:p.Ala495Val		Somatic					p.A495V	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	WXS	Illumina GAIIx	Phase_I	Q96T83	SL9A7_HUMAN			12	1509	-			495					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.1484C>T	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256021	0.95336	.	.	ENSG00000065923	ENST00000328306	T	0.18338	2.22	5.42	5.42	0.78866	Cation/H+ exchanger (1);	0.101828	0.64402	D	0.000003	T	0.50377	0.1612	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.60801	-0.7191	10	0.87932	D	0	.	18.2864	0.90115	0.0:0.0:1.0:0.0	.	495	Q96T83	SL9A7_HUMAN	V	495	ENSP00000330320:A495V	ENSP00000330320:A495V	A	-	2	0	SLC9A7	46387744	1.000000	0.71417	0.913000	0.36048	0.949000	0.60115	9.308000	0.96247	2.257000	0.74773	0.529000	0.55759	GCG		0.493	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		4	108	0	0	0	1	0	4	108				
SLC4A7	9497	broad.mit.edu	37	3	27427425	27427425	+	Missense_Mutation	SNP	A	A	T	rs201832393		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:27427425A>T	ENST00000295736.5	-	23	3493	c.3423T>A	c.(3421-3423)agT>agA	p.S1141R	SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1141					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	tctttttcttactttctGGCA	0.323																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3421-3423)agT>agA		solute carrier family 4, sodium bicarbonate cotransporter, member 7							84.0	92.0	89.0					3																	27427425		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427425A>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3423T>A	3.37:g.27427425A>T	ENSP00000295736:p.Ser1141Arg		Somatic				SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R	p.S1141R	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			23	3493	-			1141					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3423T>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462069	0.84425	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.1;-1.13;-1.11;-1.19;-1.13;-1.18;-1.14;-1.18;-1.14;-1.42;-1.11	5.53	5.53	0.82687	.	0.038500	0.85682	D	0.000000	D	0.83885	0.5351	L	0.33339	1.005	0.80722	D	1	D;P;D;D;D;B;P;D;P	0.69078	0.992;0.914;0.992;0.997;0.984;0.339;0.949;0.992;0.843	D;P;D;D;P;B;P;D;P	0.68943	0.954;0.71;0.954;0.961;0.899;0.25;0.848;0.954;0.655	D	0.83533	0.0092	10	0.38643	T	0.18	.	15.9523	0.79850	1.0:0.0:0.0:0.0	.	1137;1022;1133;1137;1150;691;1017;1141;1022	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	692;1141;1017;1150;1137;1022;1133;1022;1137;1026;691;1037	ENSP00000411031:S692R;ENSP00000295736:S1141R;ENSP00000416368:S1017R;ENSP00000390394:S1150R;ENSP00000414797:S1137R;ENSP00000394252:S1022R;ENSP00000406605:S1133R;ENSP00000407382:S1022R;ENSP00000406804:S1137R;ENSP00000395336:S1026R;ENSP00000373429:S691R;ENSP00000388703:S1037R	ENSP00000295736:S1141R	S	-	3	2	SLC4A7	27402429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.971000	0.63749	2.226000	0.72624	0.533000	0.62120	AGT		0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		11	274	0	0	0	1	0	11	274				
ARL13B	200894	broad.mit.edu	37	3	93722591	93722591	+	Silent	SNP	A	A	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:93722591A>G	ENST00000394222.3	+	3	494	c.219A>G	c.(217-219)ggA>ggG	p.G73G	ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Silent_p.G73G|ARL13B_ENST00000539730.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	73					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TTGACTTGGGAGGTGGAATAA	0.383																																						ENST00000394222.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(217-219)ggA>ggG		ADP-ribosylation factor-like 13B							148.0	155.0	153.0					3																	93722591		2203	4300	6503	SO:0001819	synonymous_variant	200894						GTP binding	g.chr3:93722591A>G	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.219A>G	3.37:g.93722591A>G			Somatic				ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Silent_p.G73G|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron	p.G73G	NM_001174150.1	NP_001167621.1	WXS	Illumina GAIIx	Phase_I	Q3SXY8	AR13B_HUMAN			3	494	+			73					D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	ENST00000394222.3	37	c.219A>G	CCDS2925.1																																																																																				0.383	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		4	358	0	0	0	1	0	4	358				
ZBED9	114821	broad.mit.edu	37	6	28541173	28541173	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:28541173G>A	ENST00000452236.2	-	4	3110	c.2493C>T	c.(2491-2493)gcC>gcT	p.A831A	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttagacttggcaaccggaa	0.408																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2491-2493)gcC>gcT		SCAN domain containing 3							143.0	135.0	137.0					6																	28541173		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541173G>A																												ENST00000452236.2:c.2493C>T	6.37:g.28541173G>A			Somatic					p.A831A	NM_052923.1	NP_443155.1	WXS	Illumina GAIIx	Phase_I	Q6R2W3	SCND3_HUMAN			4	3110	-			831						Silent	SNP	ENST00000452236.2	37	c.2493C>T	CCDS34355.1																																																																																				0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			4	176	0	0	0	1	0	4	176				
ITGAE	3682	broad.mit.edu	37	17	3661079	3661079	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:3661079C>T	ENST00000263087.4	-	9	1039	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	314	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCGAATATGCCACCATCGGT	0.547																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(940-942)gGc>gAc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							232.0	213.0	220.0					17																	3661079		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661079C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.941G>A	17.37:g.3661079C>T	ENSP00000263087:p.Gly314Asp		Somatic					p.G314D	NM_002208.4	NP_002199.3	WXS	Illumina GAIIx	Phase_I	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1039	-			314			VWFA.		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.941G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	2.997	-0.206984	0.06180	.	.	ENSG00000083457	ENST00000263087	D	0.82711	-1.64	5.56	4.49	0.54785	von Willebrand factor, type A (3);	.	.	.	.	T	0.47728	0.1461	N	0.00101	-2.135	0.27436	N	0.953858	B	0.06786	0.001	B	0.04013	0.001	T	0.45600	-0.9250	9	0.15499	T	0.54	.	9.5862	0.39517	0.0:0.0843:0.0:0.9157	.	314	P38570	ITAE_HUMAN	D	314	ENSP00000263087:G314D	ENSP00000263087:G314D	G	-	2	0	ITGAE	3607828	1.000000	0.71417	0.991000	0.47740	0.728000	0.41692	3.752000	0.55172	1.065000	0.40693	-0.492000	0.04666	GGC		0.547	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		7	813	0	0	0	1	0	7	813				
TIMELESS	8914	broad.mit.edu	37	12	56817174	56817174	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:56817174C>T	ENST00000553532.1	-	18	2326	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M	TIMELESS_ENST00000229201.4_Missense_Mutation_p.V725M|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGCATCTTCACAATGCAATGG	0.498																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2173-2175)Gtg>Atg		timeless circadian clock							153.0	136.0	142.0					12																	56817174		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817174C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2176G>A	12.37:g.56817174C>T	ENSP00000450607:p.Val726Met		Somatic				TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.V726M	p.V725M	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	Q9UNS1	TIM_HUMAN			18	2327	-			726						Missense_Mutation	SNP	ENST00000553532.1	37	c.2173G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612585	0.66672	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.10668	2.85;2.85	5.61	3.76	0.43208	.	0.396945	0.27609	N	0.018607	T	0.15132	0.0365	L	0.49126	1.545	0.80722	D	1	P	0.39326	0.668	P	0.44394	0.448	T	0.01476	-1.1345	10	0.48119	T	0.1	-8.8061	11.7187	0.51670	0.0:0.852:0.0:0.148	.	726	Q9UNS1	TIM_HUMAN	M	725;726	ENSP00000229201:V725M;ENSP00000450607:V726M	ENSP00000229201:V726M	V	-	1	0	TIMELESS	55103441	0.994000	0.37717	0.573000	0.28510	0.798000	0.45092	3.729000	0.54999	0.825000	0.34637	0.561000	0.74099	GTG		0.498	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		4	197	0	0	0	1	0	4	197				
SETD2	29072	broad.mit.edu	37	3	47103733	47103733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:47103733A>T	ENST00000409792.3	-	14	6255	c.6213T>A	c.(6211-6213)aaT>aaA	p.N2071K	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2071					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTTCTCTTTATTTTGAGTTT	0.493			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6211-6213)aaT>aaA		SET domain containing 2							311.0	305.0	307.0					3																	47103733		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103733A>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6213T>A	3.37:g.47103733A>T	ENSP00000386759:p.Asn2071Lys		Somatic				SETD2_ENST00000492397.1_5'UTR	p.N2071K	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6255	-		Acute lymphoblastic leukemia(5;0.0169)	2071					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6213T>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788732	0.49997	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24908	1.83	4.58	2.23	0.28157	.	0.372251	0.22188	N	0.063418	T	0.10852	0.0265	N	0.08118	0	0.31750	N	0.634724	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.07290	-1.0780	10	0.38643	T	0.18	.	4.7914	0.13250	0.5665:0.0:0.4335:0.0	.	2071;2071	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	2071	ENSP00000386759:N2071K	ENSP00000386759:N2071K	N	-	3	2	SETD2	47078737	0.990000	0.36364	1.000000	0.80357	0.971000	0.66376	0.682000	0.25335	0.884000	0.36064	0.374000	0.22700	AAT		0.493	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	868	0	0	0	1	0	7	868				
ATRNL1	26033	broad.mit.edu	37	10	116925320	116925320	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:116925320A>T	ENST00000355044.3	+	7	1133	c.1007A>T	c.(1006-1008)tAc>tTc	p.Y336F	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	336					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTTTAGTTACAATTTAGAA	0.338																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1006-1008)tAc>tTc		attractin-like 1							72.0	72.0	72.0					10																	116925320		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116925320A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1007A>T	10.37:g.116925320A>T	ENSP00000347152:p.Tyr336Phe		Somatic				ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	p.Y336F	NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1133	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	336					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1007A>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850923	0.71719	.	.	ENSG00000107518	ENST00000355044	T	0.73363	-0.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.97;0.994	T	0.82321	-0.0515	10	0.46703	T	0.11	-14.1365	15.8897	0.79286	1.0:0.0:0.0:0.0	.	336;336	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	F	336	ENSP00000347152:Y336F	ENSP00000347152:Y336F	Y	+	2	0	ATRNL1	116915310	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.784000	0.91818	2.150000	0.67090	0.528000	0.53228	TAC		0.338	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		4	272	0	0	0	1	0	4	272				
FGD2	221472	broad.mit.edu	37	6	36982762	36982762	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:36982762T>G	ENST00000274963.8	+	8	1148	c.977T>G	c.(976-978)gTc>gGc	p.V326G		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	326	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAGGGCCCGGTCCTCAAGATC	0.627																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(976-978)gTc>gGc		FYVE, RhoGEF and PH domain containing 2							76.0	64.0	68.0					6																	36982762		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982762T>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.977T>G	6.37:g.36982762T>G	ENSP00000274963:p.Val326Gly		Somatic					p.V326G	NM_173558.3	NP_775829.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J4	FGD2_HUMAN			8	1148	+			326			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.977T>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019696	0.54576	.	.	ENSG00000146192	ENST00000274963	D	0.89050	-2.46	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.166402	0.28555	N	0.014932	D	0.85379	0.5683	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.60415	0.874	D	0.88801	0.3285	10	0.87932	D	0	-5.5484	13.7691	0.63012	0.0:0.0:0.0:1.0	.	326	Q7Z6J4	FGD2_HUMAN	G	326	ENSP00000274963:V326G	ENSP00000274963:V326G	V	+	2	0	FGD2	37090740	0.998000	0.40836	0.475000	0.27278	0.153000	0.21895	4.857000	0.62939	1.918000	0.55548	0.459000	0.35465	GTC		0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		32	48	0	0	0	1	0	32	48				
PLA2G4C	8605	broad.mit.edu	37	19	48578024	48578024	+	Splice_Site	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:48578024C>T	ENST00000599921.1	-	12	1363	c.1006G>A	c.(1006-1008)Ggc>Agc	p.G336S	PLA2G4C_ENST00000596510.1_5'Flank|PLA2G4C_ENST00000413144.2_Splice_Site_p.G336S|PLA2G4C_ENST00000599111.1_Splice_Site_p.G346S|PLA2G4C_ENST00000354276.3_Splice_Site_p.G336S			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	336	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CACATGGTACCTTTCCTTTCG	0.572																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.e12+1		phospholipase A2, group IVC (cytosolic, calcium-independent)							247.0	196.0	213.0					19																	48578024		2203	4300	6503	SO:0001630	splice_region_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48578024C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1006+1G>A	19.37:g.48578024C>T			Somatic				PLA2G4C_ENST00000413144.2_Splice_Site_p.G336_splice|PLA2G4C_ENST00000599921.1_Splice_Site_p.G336_splice|PLA2G4C_ENST00000599111.1_Splice_Site_p.G346_splice	p.G336_splice	NM_001159323.1	NP_001152795.1	WXS	Illumina GAIIx	Phase_I	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	12	1333	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	336			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Splice_Site	SNP	ENST00000599921.1	37	c.1006_splice	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	0.523	-0.861185	0.02610	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04234	3.67;3.67	1.77	-0.259	0.12971	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.957444	0.08442	U	0.945351	T	0.01905	0.0060	N	0.02736	-0.51	0.09310	N	1	B;B	0.19817	0.039;0.02	B;B	0.19946	0.027;0.022	T	0.49370	-0.8947	9	.	.	.	-0.789	3.7685	0.08632	0.0:0.5491:0.0:0.4509	.	346;336	B4DI40;Q9UP65	.;PA24C_HUMAN	S	336	ENSP00000346228:G336S;ENSP00000400036:G336S	.	G	-	1	0	PLA2G4C	53269836	0.000000	0.05858	0.001000	0.08648	0.110000	0.19582	-0.364000	0.07583	-0.028000	0.13850	0.205000	0.17691	GGC		0.572	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		Missense_Mutation	17	658	0	0	0	1	0	17	658				
OSBPL1A	114876	broad.mit.edu	37	18	21898607	21898607	+	Silent	SNP	G	G	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr18:21898607G>C	ENST00000319481.3	-	9	896	c.690C>G	c.(688-690)gtC>gtG	p.V230V		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	230	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTTGTAGATGACCTGTCAAA	0.284																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(688-690)gtC>gtG		oxysterol binding protein-like 1A							39.0	40.0	40.0					18																	21898607		2201	4296	6497	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21898607G>C	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.690C>G	18.37:g.21898607G>C			Somatic					p.V230V	NM_080597.3	NP_542164.2	WXS	Illumina GAIIx	Phase_I	Q9BXW6	OSBL1_HUMAN			9	896	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		230					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.690C>G	CCDS11884.1																																																																																				0.284	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		6	41	0	0	0	1	0	6	41				
PSD	5662	broad.mit.edu	37	10	104171928	104171928	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:104171928C>T	ENST00000020673.5	-	7	2331	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D	PSD_ENST00000406432.1_Missense_Mutation_p.G602D	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	602	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGAGTCATGCCCGTGAAGAC	0.587																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1804-1806)gGc>gAc		pleckstrin and Sec7 domain containing							151.0	173.0	166.0					10																	104171928		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104171928C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1805G>A	10.37:g.104171928C>T	ENSP00000020673:p.Gly602Asp		Somatic				PSD_ENST00000406432.1_Missense_Mutation_p.G602D	p.G602D	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	7	2331	-			602			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1805G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355541	0.82243	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.46819	0.86;0.86	5.32	5.32	0.75619	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.055708	0.64402	D	0.000001	T	0.56292	0.1975	L	0.48174	1.505	0.50039	D	0.999849	P	0.42248	0.774	P	0.49922	0.626	T	0.57441	-0.7811	10	0.59425	D	0.04	.	18.9992	0.92826	0.0:1.0:0.0:0.0	.	602	A5PKW4	PSD1_HUMAN	D	602;505;602	ENSP00000020673:G602D;ENSP00000384830:G602D	ENSP00000020673:G602D	G	-	2	0	PSD	104161918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.681000	0.68175	2.500000	0.84329	0.561000	0.74099	GGC		0.587	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			4	298	0	0	0	1	0	4	298				
PCDHA7	56141	broad.mit.edu	37	5	140215597	140215597	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140215597G>A	ENST00000525929.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P543P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1627-1629)ccG>ccA									75.0	84.0	81.0					5																	140215597		2202	4296	6498	SO:0001819	synonymous_variant	56141							g.chr5:140215597G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1629G>A	5.37:g.140215597G>A			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P543P|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.P543P	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1629G>A	CCDS54918.1																																																																																				0.692	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		3	131	0	0	0	1	0	3	131				
AFF3	3899	broad.mit.edu	37	2	100199272	100199272	+	Silent	SNP	G	G	A	rs148546971	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:100199272G>A	ENST00000409236.2	-	15	2893	c.2781C>T	c.(2779-2781)ggC>ggT	p.G927G	AFF3_ENST00000356421.2_Silent_p.G952G|AFF3_ENST00000317233.4_Silent_p.G927G|AFF3_ENST00000409579.1_Silent_p.G952G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	927					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAGGTCTCCGCCGTGAGGCT	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2779-2781)ggC>ggT		AF4/FMR2 family, member 3		G	,	3,4403	6.2+/-15.9	0,3,2200	121.0	110.0	114.0		2856,2781	-5.8	0.0	2	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	952/1252,927/1227	100199272	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199272G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2781C>T	2.37:g.100199272G>A			Somatic				AFF3_ENST00000356421.2_Silent_p.G952G|AFF3_ENST00000409579.1_Silent_p.G952G|AFF3_ENST00000409236.1_Silent_p.G927G	p.G927G	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			16	3016	-			927					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2781C>T	CCDS42723.1																																																																																				0.488	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		6	80	0	0	0	1	0	6	80				
LRRIQ3	127255	broad.mit.edu	37	1	74506948	74506948	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:74506948A>T	ENST00000395089.1	-	6	1666	c.1667T>A	c.(1666-1668)cTa>cAa	p.L556Q	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L556Q			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	556										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTGCTTTTAGTTTTTGCTT	0.323																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1666-1668)cTa>cAa		leucine-rich repeats and IQ motif containing 3							57.0	54.0	55.0					1																	74506948		1793	4058	5851	SO:0001583	missense	127255							g.chr1:74506948A>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1667T>A	1.37:g.74506948A>T	ENSP00000378524:p.Leu556Gln		Somatic				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L556Q	p.L556Q	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			7	1858	-			556					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1667T>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565494	0.27915	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08458	3.09;3.09	5.86	-11.7	0.00046	.	.	.	.	.	T	0.01454	0.0047	N	0.24115	0.695	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.21930	-1.0231	9	0.26408	T	0.33	.	16.3031	0.82832	0.1197:0.7219:0.0:0.1584	.	556	A6PVS8	LRIQ3_HUMAN	Q	556	ENSP00000378524:L556Q;ENSP00000346414:L556Q	ENSP00000346414:L556Q	L	-	2	0	LRRIQ3	74279536	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.395000	0.07287	-1.636000	0.01533	-0.219000	0.12488	CTA		0.323	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		4	99	0	0	0	1	0	4	99				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														1564							g.chr22:42538870A>C																													22.37:g.42538870A>C			Somatic				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA				WXS	Illumina GAIIx	Phase_I					0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			6	22	0	0	0	1	0	6	22				
OR8B12	219858	broad.mit.edu	37	11	124412936	124412936	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:124412936G>A	ENST00000306842.2	-	1	639	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GCATTCCAACGTCAACAGCCA	0.448																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(613-615)gaC>gaT		olfactory receptor, family 8, subfamily B, member 12							98.0	76.0	83.0					11																	124412936		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412936G>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.615C>T	11.37:g.124412936G>A			Somatic					p.D205D	NM_001005195.1	NP_001005195.1	WXS	Illumina GAIIx	Phase_I	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	639	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	205					B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.615C>T	CCDS31711.1																																																																																				0.448	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			3	185	0	0	0	1	0	3	185				
ETV6	2120	broad.mit.edu	37	12	12022525	12022525	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:12022525C>T	ENST00000396373.4	+	5	905	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	211					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CATGATCCGCCGCCTCTCCCC	0.622			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(631-633)Cgc>Tgc		ets variant 6							111.0	123.0	119.0					12																	12022525		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022525C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.631C>T	12.37:g.12022525C>T	ENSP00000379658:p.Arg211Cys		Somatic					p.R211C	NM_001987.4	NP_001978.1	WXS	Illumina GAIIx	Phase_I	P41212	ETV6_HUMAN			5	905	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	211					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.631C>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312889	0.81358	.	.	ENSG00000139083	ENST00000396373	T	0.04809	3.55	5.65	5.65	0.86999	.	0.049771	0.85682	D	0.000000	T	0.08358	0.0208	L	0.54323	1.7	0.54753	D	0.99998	B	0.20164	0.042	B	0.08055	0.003	T	0.14476	-1.0471	10	0.40728	T	0.16	.	19.3356	0.94316	0.0:1.0:0.0:0.0	.	211	P41212	ETV6_HUMAN	C	211	ENSP00000379658:R211C	ENSP00000379658:R211C	R	+	1	0	ETV6	11913792	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	2.655000	0.90218	0.655000	0.94253	CGC		0.622	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		6	103	0	0	0	1	0	6	103				
SUV420H1	51111	broad.mit.edu	37	11	67925230	67925230	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:67925230T>C	ENST00000304363.4	-	11	2936	c.2583A>G	c.(2581-2583)atA>atG	p.I861M		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	861					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTTTCCAACTATTAACCTCA	0.413																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2581-2583)atA>atG		suppressor of variegation 4-20 homolog 1 (Drosophila)							56.0	57.0	57.0					11																	67925230		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925230T>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2583A>G	11.37:g.67925230T>C	ENSP00000305899:p.Ile861Met		Somatic					p.I861M	NM_017635.3	NP_060105.3	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			11	2936	-			861					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2583A>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206095	0.58234	.	.	ENSG00000110066	ENST00000304363	T	0.60548	0.18	5.71	-10.7	0.00240	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77560	-0.2542	10	0.87932	D	0	-24.77	12.9774	0.58544	0.2094:0.0:0.5852:0.2054	.	861	Q4FZB7	SV421_HUMAN	M	861	ENSP00000305899:I861M	ENSP00000305899:I861M	I	-	3	3	SUV420H1	67681806	0.377000	0.25106	0.033000	0.17914	0.986000	0.74619	-0.417000	0.07088	-1.411000	0.02032	0.402000	0.26972	ATA		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		5	75	0	0	0	1	0	5	75				
ZNF260	339324	broad.mit.edu	37	19	37005601	37005601	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:37005601A>T	ENST00000523638.1	-	3	1661	c.540T>A	c.(538-540)atT>atA	p.I180I	ZNF260_ENST00000588993.1_Silent_p.I180I|ZNF260_ENST00000592282.1_Silent_p.I180I|ZNF260_ENST00000593142.1_Silent_p.I180I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	180					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TCTGATGTTTAATGAGGTATT	0.388																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(538-540)atT>atA		zinc finger protein 260							179.0	181.0	180.0					19																	37005601		2203	4300	6503	SO:0001819	synonymous_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005601A>T	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.540T>A	19.37:g.37005601A>T			Somatic				ZNF260_ENST00000593142.1_Silent_p.I180I|ZNF260_ENST00000592282.1_Silent_p.I180I|ZNF260_ENST00000588993.1_Silent_p.I180I	p.I180I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	WXS	Illumina GAIIx	Phase_I	Q3ZCT1	ZN260_HUMAN			3	1661	-	Esophageal squamous(110;0.162)		180					Q0VF43	Silent	SNP	ENST00000523638.1	37	c.540T>A	CCDS33003.1																																																																																				0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		7	259	0	0	0	1	0	7	259				
ARHGAP25	9938	broad.mit.edu	37	2	69034497	69034497	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:69034497T>C	ENST00000295381.3	+	5	975	c.556T>C	c.(556-558)Ttc>Ctc	p.F186L	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.F179L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.F161L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.F147L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.F187L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	186	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGTGCAGAGTTCATCCTGGA	0.577																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(556-558)Ttc>Ctc		Rho GTPase activating protein 25							120.0	106.0	111.0					2																	69034497		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69034497T>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.556T>C	2.37:g.69034497T>C	ENSP00000295381:p.Phe186Leu		Somatic				ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.F179L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.F187L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.F147L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.F161L	p.F186L	NM_001007231.2	NP_001007232.2	WXS	Illumina GAIIx	Phase_I	P42331	RHG25_HUMAN			5	975	+			186			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.556T>C		.	.	.	.	.	.	.	.	.	.	T	22.9	4.353897	0.82243	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.42900	0.96;0.96;2.76;2.76;0.96;2.76;2.76	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098115	0.64402	D	0.000001	T	0.64864	0.2637	M	0.86651	2.83	0.80722	D	1	D;P;D;D;D;P;D	0.62365	0.977;0.606;0.971;0.971;0.971;0.952;0.991	P;P;P;P;P;B;D	0.65233	0.759;0.582;0.475;0.475;0.475;0.291;0.933	T	0.66575	-0.5889	10	0.25751	T	0.34	.	13.8255	0.63348	0.0:0.0:0.0:1.0	.	147;161;187;180;179;180;186	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	L	161;186;187;147;179;180;180;180;171	ENSP00000439917:F161L;ENSP00000295381:F186L;ENSP00000386911:F187L;ENSP00000420583:F147L;ENSP00000386863:F179L;ENSP00000386241:F180L;ENSP00000417139:F180L	ENSP00000295381:F186L	F	+	1	0	ARHGAP25	68888001	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.637000	0.83313	2.058000	0.61347	0.454000	0.30748	TTC		0.577	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		21	244	0	0	0	1	0	21	244				
CCDC15	80071	broad.mit.edu	37	11	124857652	124857652	+	Silent	SNP	G	G	A	rs111966038		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:124857652G>A	ENST00000344762.5	+	8	1789	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L	CCDC15_ENST00000529051.1_Silent_p.L510L	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	510						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTGTCTAGAGACC	0.388													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18741	0.0		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1528-1530)ttG>ttA		coiled-coil domain containing 15							148.0	141.0	144.0					11																	124857652		1808	4073	5881	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124857652G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1530G>A	11.37:g.124857652G>A			Somatic				CCDC15_ENST00000344762.5_Silent_p.L510L	p.L510L			WXS	Illumina GAIIx	Phase_I	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1789	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	510					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.1530G>A	CCDS44756.1																																																																																				0.388	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	428	0	0	0	1	0	5	428				
AKAP10	11216	broad.mit.edu	37	17	19861404	19861404	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:19861404G>T	ENST00000225737.6	-	4	957	c.800C>A	c.(799-801)tCt>tAt	p.S267Y	AKAP10_ENST00000395536.3_Missense_Mutation_p.S267Y|AKAP10_ENST00000572155.1_5'Flank	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	267	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGTAGAGGAAGATTCTTGGGT	0.428																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(799-801)tCt>tAt		A kinase (PRKA) anchor protein 10							148.0	144.0	145.0					17																	19861404		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861404G>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.800C>A	17.37:g.19861404G>T	ENSP00000225737:p.Ser267Tyr		Somatic				AKAP10_ENST00000395536.3_Missense_Mutation_p.S267Y	p.S267Y	NM_007202.3	NP_009133.2	WXS	Illumina GAIIx	Phase_I	O43572	AKA10_HUMAN			4	957	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		267			RGS 1.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.800C>A	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337605	0.81911	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.18657	2.2	6.08	6.08	0.98989	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.538961	0.22190	N	0.063387	T	0.37265	0.0997	L	0.51422	1.61	0.43890	D	0.99651	P;P;P	0.48589	0.527;0.912;0.912	P;P;P	0.53185	0.635;0.72;0.72	T	0.01341	-1.1380	10	0.72032	D	0.01	-0.048	19.6603	0.95864	0.0:0.0:1.0:0.0	.	267;267;267	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	Y	267	ENSP00000225737:S267Y	ENSP00000225737:S267Y	S	-	2	0	AKAP10	19801996	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	5.332000	0.65911	2.894000	0.99253	0.591000	0.81541	TCT		0.428	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		11	609	1	0	3.86212e-05	1	3.96721e-05	11	609				
TNS4	84951	broad.mit.edu	37	17	38633918	38633918	+	Silent	SNP	C	C	T	rs187149174		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:38633918C>T	ENST00000254051.6	-	13	2228	c.2070G>A	c.(2068-2070)gcG>gcA	p.A690A		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	690	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGTCATACTCCGCAAAGAGGT	0.602																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(2068-2070)gcG>gcA		tensin 4							136.0	106.0	116.0					17																	38633918		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38633918C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.2070G>A	17.37:g.38633918C>T			Somatic					p.A690A	NM_032865.5	NP_116254.4	WXS	Illumina GAIIx	Phase_I	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		13	2228	-		Breast(137;0.000496)	690			Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.2070G>A	CCDS11368.1																																																																																				0.602	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		5	587	0	0	0	1	0	5	587				
AHI1	54806	broad.mit.edu	37	6	135784297	135784297	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:135784297A>T	ENST00000367800.4	-	6	1113	c.897T>A	c.(895-897)ccT>ccA	p.P299P	AHI1_ENST00000327035.6_Silent_p.P299P|AHI1_ENST00000457866.2_Silent_p.P299P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	299	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTTTGGTTTAGGTTTTGTAT	0.303																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(895-897)ccT>ccA		Abelson helper integration site 1							104.0	92.0	96.0					6																	135784297		1838	4096	5934	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784297A>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.897T>A	6.37:g.135784297A>T			Somatic				AHI1_ENST00000457866.2_Silent_p.P299P|AHI1_ENST00000327035.6_Silent_p.P299P	p.P299P	NM_001134830.1	NP_001128302.1	WXS	Illumina GAIIx	Phase_I	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1113	-	Breast(56;0.239)|Colorectal(23;0.24)		299					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.897T>A	CCDS47483.1																																																																																				0.303	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		6	149	0	0	0	1	0	6	149				
ABCA9	10350	broad.mit.edu	37	17	67013849	67013849	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:67013849C>A	ENST00000340001.4	-	21	3060	c.2849G>T	c.(2848-2850)gGc>gTc	p.G950V	ABCA9_ENST00000453985.2_Missense_Mutation_p.G950V|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.G950V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	950					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCATCTGTGCCATTTCTAGT	0.428																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2848-2850)gGc>gTc		ATP-binding cassette, sub-family A (ABC1), member 9							306.0	280.0	289.0					17																	67013849		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67013849C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2849G>T	17.37:g.67013849C>A	ENSP00000342216:p.Gly950Val		Somatic				ABCA9_ENST00000370732.2_Missense_Mutation_p.G950V|ABCA9_ENST00000453985.2_Missense_Mutation_p.G950V|ABCA9-AS1_ENST00000458677.1_RNA	p.G950V	NM_080283.3	NP_525022.2	WXS	Illumina GAIIx	Phase_I	Q8IUA7	ABCA9_HUMAN			21	3060	-	Breast(10;1.47e-12)		950					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2849G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046902	0.55110	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86865	-2.07;-2.18	5.1	5.1	0.69264	.	0.000000	0.45867	D	0.000338	D	0.90755	0.7098	M	0.80332	2.49	0.50632	D	0.999884	D;P	0.54047	0.964;0.708	P;P	0.55303	0.773;0.728	D	0.90182	0.4243	10	0.40728	T	0.16	.	11.2116	0.48802	0.1831:0.8169:0.0:0.0	.	950;950	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	950;933;950;945	ENSP00000342216:G950V;ENSP00000359767:G950V	ENSP00000342216:G950V	G	-	2	0	ABCA9	64525444	0.862000	0.29867	0.913000	0.36048	0.764000	0.43329	2.870000	0.48451	2.372000	0.80975	0.591000	0.81541	GGC		0.428	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		30	1396	1	0	3.62473e-10	1	3.82751e-10	30	1396				
CFAP70	118491	broad.mit.edu	37	10	75051106	75051106	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:75051106A>T	ENST00000310715.3	-	20	2447	c.2327T>A	c.(2326-2328)gTa>gAa	p.V776E	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.V245E|TTC18_ENST00000394865.1_Missense_Mutation_p.V776E|TTC18_ENST00000401621.2_Missense_Mutation_p.V776E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		776						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGCTTTGTTACTTGTGCCTG	0.438																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2326-2328)gTa>gAa		tetratricopeptide repeat domain 18							201.0	181.0	188.0					10																	75051106		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051106A>T																												ENST00000310715.3:c.2327T>A	10.37:g.75051106A>T	ENSP00000310829:p.Val776Glu		Somatic				TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.V245E|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.V776E|TTC18_ENST00000310715.3_Missense_Mutation_p.V776E	p.V776E			WXS	Illumina GAIIx	Phase_I	Q5T0N1	TTC18_HUMAN			20	2447	-	Prostate(51;0.0119)		776					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2327T>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770742	0.49680	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.33216	1.89;1.89;1.42;1.47	4.93	0.68	0.17980	.	1.699150	0.03039	N	0.153160	T	0.22282	0.0537	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.14783	-1.0460	10	0.25106	T	0.35	.	5.369	0.16129	0.4741:0.3544:0.0:0.1715	.	776	Q5T0N1	TTC18_HUMAN	E	776;776;776;183;776	ENSP00000310829:V776E;ENSP00000384479:V776E;ENSP00000409527:V183E;ENSP00000378334:V776E	ENSP00000310829:V776E	V	-	2	0	TTC18	74721112	0.017000	0.18338	0.003000	0.11579	0.768000	0.43524	1.897000	0.39799	0.249000	0.21456	0.482000	0.46254	GTA		0.438	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	704	0	0	0	1	0	7	704				
SMG8	55181	broad.mit.edu	37	17	57290221	57290221	+	Silent	SNP	T	T	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:57290221T>A	ENST00000543872.2	+	4	2301	c.2037T>A	c.(2035-2037)ctT>ctA	p.L679L	SMG8_ENST00000300917.5_Silent_p.L679L|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	679					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTGATAAACTTAAAGAAAAAG	0.438																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2035-2037)ctT>ctA		SMG8 nonsense mediated mRNA decay factor							122.0	133.0	129.0					17																	57290221		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290221T>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2037T>A	17.37:g.57290221T>A			Somatic				SMG8_ENST00000300917.5_Silent_p.L679L|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_3'UTR	p.L679L			WXS	Illumina GAIIx	Phase_I	Q8ND04	SMG8_HUMAN			4	2301	+			679					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.2037T>A	CCDS11615.1																																																																																				0.438	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		7	304	0	0	0	1	0	7	304				
SP1	6667	broad.mit.edu	37	12	53777071	53777071	+	Missense_Mutation	SNP	G	G	T	rs376012457		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:53777071G>T	ENST00000327443.4	+	3	1438	c.1340G>T	c.(1339-1341)gGt>gTt	p.G447V	SP1_ENST00000426431.2_Missense_Mutation_p.G440V	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	447	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCAAACTCTGGTCCCATCATC	0.552																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1318-1320)gGt>gTt		Sp1 transcription factor		G	VAL/GLY,VAL/GLY	0,4406		0,0,2203	119.0	125.0	123.0		1319,1340	4.7	1.0	12		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SP1	NM_003109.1,NM_138473.2	109,109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	440/779,447/786	53777071	1,13005	2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777071G>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1340G>T	12.37:g.53777071G>T	ENSP00000329357:p.Gly447Val		Somatic				SP1_ENST00000327443.4_Missense_Mutation_p.G447V	p.G440V	NM_003109.1	NP_003100.1	WXS	Illumina GAIIx	Phase_I	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1379	+			447			Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.1319G>T	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481344	0.63849	0.0	1.16E-4	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.10005	2.93;2.92	4.67	4.67	0.58626	.	0.000000	0.56097	D	0.000037	T	0.17492	0.0420	L	0.57536	1.79	0.80722	D	1	P	0.41748	0.761	B	0.43445	0.42	T	0.01015	-1.1480	10	0.54805	T	0.06	.	16.8884	0.86081	0.0:0.0:1.0:0.0	.	447	P08047	SP1_HUMAN	V	447;440	ENSP00000329357:G447V;ENSP00000404263:G440V	ENSP00000329357:G447V	G	+	2	0	SP1	52063338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.146000	0.77373	2.595000	0.87683	0.467000	0.42956	GGT		0.552	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			13	210	1	0	1.05317e-09	1	1.10437e-09	13	210				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly		Somatic				CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		6	307	0	0	0	1	0	6	307				
TFPT	29844	broad.mit.edu	37	19	54610427	54610427	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:54610427G>A	ENST00000391759.1	-	6	1097	c.692C>T	c.(691-693)tCc>tTc	p.S231F	NDUFA3_ENST00000485876.1_3'UTR|TFPT_ENST00000391758.1_Missense_Mutation_p.S222F|TFPT_ENST00000391757.1_3'UTR|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	231					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AACCCAACTGGAATCCAGGGC	0.527			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(691-693)tCc>tTc		TCF3 (E2A) fusion partner (in childhood Leukemia)							127.0	133.0	131.0					19																	54610427		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54610427G>A	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.692C>T	19.37:g.54610427G>A	ENSP00000375639:p.Ser231Phe		Somatic				NDUFA3_ENST00000391764.3_Intron|NDUFA3_ENST00000485876.1_3'UTR|TFPT_ENST00000391757.1_3'UTR|TFPT_ENST00000391758.1_Missense_Mutation_p.S222F	p.S231F	NM_013342.3	NP_037474.1	WXS	Illumina GAIIx	Phase_I	P0C1Z6	TFPT_HUMAN			6	1097	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		231						Missense_Mutation	SNP	ENST00000391759.1	37	c.692C>T	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820691	0.32145	.	.	ENSG00000105619	ENST00000391759;ENST00000391758	.	.	.	4.97	3.94	0.45596	.	0.270105	0.26844	N	0.022202	T	0.26702	0.0653	N	0.19112	0.55	0.27179	N	0.960703	B	0.06786	0.001	B	0.10450	0.005	T	0.19095	-1.0316	9	0.72032	D	0.01	-9.8049	7.6694	0.28449	0.1906:0.0:0.8094:0.0	.	231	P0C1Z6	TFPT_HUMAN	F	231;222	.	ENSP00000375638:S222F	S	-	2	0	TFPT	59302239	1.000000	0.71417	0.830000	0.32933	0.927000	0.56198	4.733000	0.62036	1.246000	0.43901	0.655000	0.94253	TCC		0.527	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		6	275	0	0	0	1	0	6	275				
CACNA1S	779	broad.mit.edu	37	1	201039525	201039525	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:201039525G>A	ENST00000362061.3	-	17	2461	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	CACNA1S_ENST00000367338.3_Silent_p.D745D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	745					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCTTCCTCGTCATCCCCTG	0.607																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2233-2235)gaC>gaT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						64.0	68.0	67.0					1																	201039525		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201039525G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2235C>T	1.37:g.201039525G>A			Somatic				CACNA1S_ENST00000367338.3_Silent_p.D745D	p.D745D	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			17	2461	-			745					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.2235C>T	CCDS1407.1																																																																																				0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	274	0	0	0	1	0	5	274				
UBE2D3	7323	broad.mit.edu	37	4	103720581	103720581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:103720581A>T	ENST00000453744.2	-	7	894	c.381T>A	c.(379-381)taT>taA	p.Y127*	UBE2D3_ENST00000321805.7_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000504211.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000357194.6_Nonsense_Mutation_p.Y129*|UBE2D3_ENST00000505207.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000338145.3_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000394804.2_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000349311.8_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000394801.4_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000343106.5_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000394803.5_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000502404.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000507845.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000350435.7_Nonsense_Mutation_p.Y121*	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	127					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGTCTGTTTTATAGATCCGTG	0.358																																						ENST00000453744.2																			0				kidney(1)|lung(3)|skin(1)	5						c.(379-381)taT>taA		ubiquitin-conjugating enzyme E2D 3							59.0	60.0	60.0					4																	103720581		2203	4299	6502	SO:0001587	stop_gained	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103720581A>T	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.381T>A	4.37:g.103720581A>T	ENSP00000396901:p.Tyr127*		Somatic				UBE2D3_ENST00000504211.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000502404.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000507845.1_Nonsense_Mutation_p.Y98*|UBE2D3_ENST00000394803.5_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000343106.5_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000357194.6_Nonsense_Mutation_p.Y129*|UBE2D3_ENST00000321805.7_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000394801.4_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000394804.2_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000338145.3_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000349311.8_Nonsense_Mutation_p.Y127*|UBE2D3_ENST00000350435.7_Nonsense_Mutation_p.Y121*|UBE2D3_ENST00000505207.1_Nonsense_Mutation_p.Y98*	p.Y127*	NM_181891.1	NP_871620.1	WXS	Illumina GAIIx	Phase_I	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	7	894	-		Hepatocellular(203;0.217)	127					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Nonsense_Mutation	SNP	ENST00000453744.2	37	c.381T>A	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	A	39	7.668788	0.98422	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404	.	.	.	5.89	5.89	0.94794	.	0.057932	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6099	0.45415	0.9284:0.0:0.0716:0.0	.	.	.	.	X	127;127;127;127;127;127;121;127;127;98;129;98;98;98	.	ENSP00000318494:Y127X	Y	-	3	2	UBE2D3	103939693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.932000	0.63476	2.251000	0.74343	0.482000	0.46254	TAT		0.358	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		4	123	0	0	0	1	0	4	123				
ZCCHC17	51538	broad.mit.edu	37	1	31836952	31836952	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:31836952G>A	ENST00000373714.1	+	8	899	c.638G>A	c.(637-639)gGc>gAc	p.G213D	ZCCHC17_ENST00000422613.2_Missense_Mutation_p.G215D|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.G205D|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.G213D	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	213	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AGTGATACAGGCAAGAGGGCA	0.393																																						ENST00000373714.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.(637-639)gGc>gAc		zinc finger, CCHC domain containing 17							89.0	92.0	91.0					1																	31836952		2203	4300	6503	SO:0001583	missense	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31836952G>A	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.638G>A	1.37:g.31836952G>A	ENSP00000362819:p.Gly213Asp		Somatic				ZCCHC17_ENST00000422613.2_Missense_Mutation_p.G215D|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.G213D|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.G205D	p.G213D			WXS	Illumina GAIIx	Phase_I	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	8	899	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	213			Lys-rich.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	c.638G>A	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636268	0.47049	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.52	5.52	0.82312	.	0.094381	0.46758	D	0.000277	T	0.64560	0.2609	L	0.36672	1.1	0.33264	D	0.560141	P;D;D	0.89917	0.933;1.0;0.999	B;D;D	0.87578	0.323;0.998;0.959	T	0.72020	-0.4416	9	0.87932	D	0	.	16.2868	0.82725	0.0:0.0:1.0:0.0	.	215;205;213	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	D	213;213;205;215	.	ENSP00000343557:G213D	G	+	2	0	ZCCHC17	31609539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.224000	0.58593	2.872000	0.98467	0.650000	0.86243	GGC		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		13	206	0	0	0	1	0	13	206				
CCT2	10576	broad.mit.edu	37	12	69986754	69986754	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:69986754A>T	ENST00000299300.6	+	9	938		c.e9-1		CCT2_ENST00000543146.2_Splice_Site|CCT2_ENST00000544368.2_Splice_Site	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CGTTTGTCTTAGATATTTGGT	0.423																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.e9-1		chaperonin containing TCP1, subunit 2 (beta)							63.0	64.0	64.0					12																	69986754		2203	4300	6503	SO:0001630	splice_region_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69986754A>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.751-1A>T	12.37:g.69986754A>T			Somatic				CCT2_ENST00000299300.6_Splice_Site|CCT2_ENST00000544368.2_Splice_Site		NM_001198842.1	NP_001185771.1	WXS	Illumina GAIIx	Phase_I	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	1091	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)							A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Splice_Site	SNP	ENST00000299300.6	37		CCDS8991.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604742	0.66445	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8391	0.78831	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCT2	68273021	1.000000	0.71417	0.965000	0.40720	0.734000	0.41952	8.544000	0.90654	2.137000	0.66172	0.524000	0.50904	.		0.423	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431	Intron	4	82	0	0	0	1	0	4	82				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T			Somatic				TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	314	0	0	0	1	0	8	314				
FLT3	2322	broad.mit.edu	37	13	28608446	28608446	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:28608446A>T	ENST00000241453.7	-	13	1777	c.1696T>A	c.(1696-1698)Tac>Aac	p.Y566N	FLT3_ENST00000380982.4_Missense_Mutation_p.Y566N|FLT3_ENST00000537084.1_Missense_Mutation_p.Y566N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	566					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTTTTGTACTTGTGACAA	0.373			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1696-1698)Tac>Aac		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						79.0	75.0	76.0					13																	28608446		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608446A>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1696T>A	13.37:g.28608446A>T	ENSP00000241453:p.Tyr566Asn		Somatic				FLT3_ENST00000241453.7_Missense_Mutation_p.Y566N|FLT3_ENST00000537084.1_Missense_Mutation_p.Y566N	p.Y566N			WXS	Illumina GAIIx	Phase_I	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	13	1777	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	566					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1696T>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.710768	0.48517	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.79940	-1.25;-1.32;-1.07	5.83	5.83	0.93111	.	0.102457	0.43919	D	0.000513	D	0.83931	0.5361	L	0.58583	1.82	0.39100	D	0.961268	D;B	0.60575	0.988;0.339	P;B	0.52267	0.694;0.034	D	0.86232	0.1638	10	0.56958	D	0.05	.	16.1982	0.82046	1.0:0.0:0.0:0.0	.	566;566	P36888-2;P36888	.;FLT3_HUMAN	N	566	ENSP00000241453:Y566N;ENSP00000370369:Y566N;ENSP00000438139:Y566N	ENSP00000241453:Y566N	Y	-	1	0	FLT3	27506446	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.709000	0.54853	2.226000	0.72624	0.533000	0.62120	TAC		0.373	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			5	377	0	0	0	1	0	5	377				
KIAA1217	56243	broad.mit.edu	37	10	24834019	24834019	+	Missense_Mutation	SNP	G	G	A	rs575450846	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:24834019G>A	ENST00000376454.3	+	20	5351	c.5321G>A	c.(5320-5322)cGc>cAc	p.R1774H	KIAA1217_ENST00000376462.1_Missense_Mutation_p.R1095H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1180H|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R1457H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1205H|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R898H|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R924H|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R858H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1774					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R1774H(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGGATCCCCGCCAATATCGT	0.502													G|||	3	0.000599042	0.0	0.0	5008	,	,		19013	0.0		0.0	False		,,,				2504	0.0031					ENST00000376451.2																			1	Substitution - Missense(1)	p.R1774H(1)	large_intestine(1)	breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(4369-4371)cGc>cAc		KIAA1217							61.0	68.0	65.0					10																	24834019		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24834019G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5321G>A	10.37:g.24834019G>A	ENSP00000365637:p.Arg1774His		Somatic				KIAA1217_ENST00000396446.1_Missense_Mutation_p.R858H|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R924H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1180H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1205H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R1095H|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R898H|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1774H	p.R1457H			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			15	4630	+			1774					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4370G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929620	0.92389	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.64618	1.18;0.86;0.61;0.76;-0.11;-0.02;0.31;0.63	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.70275	2.135	0.51767	D	0.999935	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;P;D;D;D;D	0.91635	0.999;0.858;0.999;0.904;0.999;0.999;0.999;0.999	T	0.80935	-0.1160	10	0.87932	D	0	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	1180;1205;858;898;1457;924;1774;1175	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	H	1095;1180;1457;1774;1205;924;1363;898;1457;858	ENSP00000365645:R1095H;ENSP00000392625:R1180H;ENSP00000365637:R1774H;ENSP00000365635:R1205H;ENSP00000302343:R924H;ENSP00000379722:R898H;ENSP00000365634:R1457H;ENSP00000379723:R858H	ENSP00000302343:R924H	R	+	2	0	KIAA1217	24874025	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.443000	0.97568	2.723000	0.93209	0.655000	0.94253	CGC		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		4	194	0	0	0	1	0	4	194				
MMP2	4313	broad.mit.edu	37	16	55523683	55523683	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:55523683C>T	ENST00000219070.4	+	7	1636	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	MMP2_ENST00000437642.2_Missense_Mutation_p.A326V|MMP2_ENST00000570308.1_Missense_Mutation_p.A300V|MMP2_ENST00000543485.1_Missense_Mutation_p.A300V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	376	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ATGTGGTGTGCGACCACAGCC	0.582																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1126-1128)gCg>gTg		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						109.0	91.0	97.0					16																	55523683		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523683C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1127C>T	16.37:g.55523683C>T	ENSP00000219070:p.Ala376Val		Somatic				MMP2_ENST00000570308.1_Missense_Mutation_p.A300V|MMP2_ENST00000437642.2_Missense_Mutation_p.A326V|MMP2_ENST00000543485.1_Missense_Mutation_p.A300V	p.A376V	NM_004530.4	NP_004521.1	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1636	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	376			Collagen-binding.|Fibronectin type-II 3.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1127C>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115854	0.77323	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.63417	-0.04;-0.04;-0.04	5.05	4.08	0.47627	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.105878	0.64402	D	0.000005	T	0.81800	0.4899	M	0.92555	3.32	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61658	0.892;0.746	D	0.87223	0.2255	10	0.87932	D	0	.	15.6214	0.76810	0.0:0.8619:0.138:0.0	.	326;376	E9PE45;P08253	.;MMP2_HUMAN	V	376;300;326	ENSP00000219070:A376V;ENSP00000444143:A300V;ENSP00000394237:A326V	ENSP00000219070:A376V	A	+	2	0	MMP2	54081184	1.000000	0.71417	0.017000	0.16124	0.399000	0.30720	6.038000	0.70964	1.215000	0.43411	0.655000	0.94253	GCG		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			4	259	0	0	0	1	0	4	259				
FAM208B	54906	broad.mit.edu	37	10	5789569	5789569	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:5789569A>T	ENST00000328090.5	+	15	4810	c.4185A>T	c.(4183-4185)gtA>gtT	p.V1395V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1395																	TTGATTCTGTAATTGAAGAAG	0.373																																						ENST00000328090.5																			0											c.(4183-4185)gtA>gtT		family with sequence similarity 208, member B							120.0	113.0	115.0					10																	5789569		1866	4101	5967	SO:0001819	synonymous_variant	54906							g.chr10:5789569A>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4185A>T	10.37:g.5789569A>T			Somatic					p.V1395V	NM_017782.4	NP_060252.4	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			15	4810	+			1395					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.4185A>T	CCDS41485.1																																																																																				0.373	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	342	0	0	0	1	0	6	342				
BMS1	9790	broad.mit.edu	37	10	43318593	43318593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:43318593G>A	ENST00000374518.5	+	20	3223	c.3160G>A	c.(3160-3162)Gcc>Acc	p.A1054T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1054					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGAAGTGGCCAAATTTGA	0.423																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3160-3162)Gcc>Acc		BMS1 ribosome biogenesis factor							77.0	82.0	80.0					10																	43318593		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318593G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3160G>A	10.37:g.43318593G>A	ENSP00000363642:p.Ala1054Thr		Somatic					p.A1054T	NM_014753.3	NP_055568.3	WXS	Illumina GAIIx	Phase_I	Q14692	BMS1_HUMAN			20	3223	+			1054					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3160G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330070	0.95733	.	.	ENSG00000165733	ENST00000374518	T	0.18016	2.24	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.71296	2.17	0.80722	D	1	P	0.50819	0.939	P	0.56278	0.795	T	0.10567	-1.0624	10	0.37606	T	0.19	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1054	Q14692	BMS1_HUMAN	T	1054	ENSP00000363642:A1054T	ENSP00000363642:A1054T	A	+	1	0	BMS1	42638599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	GCC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	798	0	0	0	1	0	6	798				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		23	1451	0	0	0	1	0	23	1451				
CES3	23491	broad.mit.edu	37	16	67006335	67006335	+	Silent	SNP	G	G	A	rs374347604		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:67006335G>A	ENST00000303334.4	+	11	1439	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	CES3_ENST00000543856.1_Silent_p.V95V|CES3_ENST00000394037.1_Silent_p.V456V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	456						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTGCCTGGGTGAAGGCTGATC	0.532																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1366-1368)gtG>gtA		carboxylesterase 3		G	,,	0,4400		0,0,2200	196.0	194.0	194.0		285,1368,1368	0.2	0.7	16		194	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CES3	NM_001185176.1,NM_001185177.1,NM_024922.5	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	95/211,456/569,456/572	67006335	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006335G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1368G>A	16.37:g.67006335G>A			Somatic				CES3_ENST00000394037.1_Silent_p.V456V|CES3_ENST00000543856.1_Silent_p.V95V	p.V456V	NM_024922.5	NP_079198.2	WXS	Illumina GAIIx	Phase_I	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	11	1439	+		Ovarian(137;0.0563)	456					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1368G>A	CCDS10826.1																																																																																				0.532	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		25	401	0	0	0	1	0	25	401				
CEMIP	57214	broad.mit.edu	37	15	81188376	81188376	+	Silent	SNP	C	C	T	rs369462089		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:81188376C>T	ENST00000394685.3	+	12	1805	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.C462C|KIAA1199_ENST00000356249.5_Silent_p.C462C			Q8WUJ3	CEMIP_HUMAN		462	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCAGATCCTGCGCCCCCAACC	0.463																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1384-1386)tgC>tgT		KIAA1199		C		0,4406		0,0,2203	115.0	106.0	109.0		1386	-7.2	0.0	15		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1199	NM_018689.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		462/1362	81188376	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81188376C>T																												ENST00000394685.3:c.1386C>T	15.37:g.81188376C>T			Somatic				KIAA1199_ENST00000356249.5_Silent_p.C462C|KIAA1199_ENST00000220244.3_Silent_p.C462C	p.C462C			WXS	Illumina GAIIx	Phase_I	Q8WUJ3	K1199_HUMAN			12	1805	+			462					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.1386C>T	CCDS10315.1																																																																																				0.463	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			3	174	0	0	0	1	0	3	174				
LRRC17	10234	broad.mit.edu	37	7	102574960	102574960	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:102574960T>A	ENST00000339431.4	+	2	895	c.600T>A	c.(598-600)aaT>aaA	p.N200K	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.N200K	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	200	LRRCT 1.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AACAAAAAAATAAAAAACTGC	0.423																																						ENST00000249377.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(598-600)aaT>aaA		leucine rich repeat containing 17							40.0	45.0	43.0					7																	102574960		2200	4297	6497	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574960T>A	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.600T>A	7.37:g.102574960T>A	ENSP00000344242:p.Asn200Lys		Somatic				FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.N200K|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron	p.N200K	NM_005824.2	NP_005815.2	WXS	Illumina GAIIx	Phase_I	Q8N6Y2	LRC17_HUMAN			2	881	+			200			LRRCT 1.		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.600T>A	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964898	0.53507	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.61627	0.35;0.09	5.28	0.144	0.14824	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000015	T	0.50292	0.1607	L	0.45285	1.41	0.37427	D	0.913862	P;P	0.50272	0.89;0.933	B;P	0.47346	0.343;0.544	T	0.53865	-0.8378	10	0.46703	T	0.11	-33.4593	9.6942	0.40147	0.0:0.3815:0.0:0.6185	.	200;200	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	K	200	ENSP00000344242:N200K;ENSP00000249377:N200K	ENSP00000249377:N200K	N	+	3	2	LRRC17	102362196	0.911000	0.30947	0.980000	0.43619	0.966000	0.64601	0.103000	0.15292	0.078000	0.16900	0.460000	0.39030	AAT		0.423	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		5	142	0	0	0	1	0	5	142				
SAFB	6294	broad.mit.edu	37	19	5661631	5661631	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:5661631G>A	ENST00000292123.5	+	15	2072	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	SAFB_ENST00000433404.1_Silent_p.Q485Q|SAFB_ENST00000588852.1_Silent_p.Q655Q|SAFB_ENST00000454510.1_Silent_p.Q586Q|SAFB_ENST00000538656.1_Silent_p.Q497Q|SAFB_ENST00000592224.1_Silent_p.Q654Q	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	655	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGGCCTTCCAGCGCCAGCGGC	0.697																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(1963-1965)caG>caA		scaffold attachment factor B							21.0	26.0	24.0					19																	5661631		2201	4296	6497	SO:0001819	synonymous_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5661631G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1965G>A	19.37:g.5661631G>A			Somatic				SAFB_ENST00000433404.1_Silent_p.Q485Q|SAFB_ENST00000588852.1_Silent_p.Q655Q|SAFB_ENST00000454510.1_Silent_p.Q586Q|SAFB_ENST00000538656.1_Silent_p.Q497Q|SAFB_ENST00000592224.1_Silent_p.Q654Q	p.Q655Q	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	WXS	Illumina GAIIx	Phase_I	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	15	2072	+			655			Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	ENST00000292123.5	37	c.1965G>A	CCDS12142.1																																																																																				0.697	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			3	25	0	0	0	1	0	3	25				
MON2	23041	broad.mit.edu	37	12	62928623	62928623	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:62928623A>T	ENST00000393632.2	+	13	2024		c.e13-1		MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000393630.3_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000546600.1_Splice_Site|MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000552115.1_Splice_Site	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCCTTTAAGTTAGTAGGG	0.323																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.e13-1		MON2 homolog (S. cerevisiae)							124.0	115.0	118.0					12																	62928623		2203	4300	6503	SO:0001630	splice_region_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62928623A>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1634-1A>T	12.37:g.62928623A>T			Somatic				MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000393632.2_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000546600.1_Splice_Site|MON2_ENST00000280379.6_Splice_Site		NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	WXS	Illumina GAIIx	Phase_I	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	13	2024	+								A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Splice_Site	SNP	ENST00000393632.2	37		CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563873	0.45694	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8645	0.70404	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MON2	61214890	1.000000	0.71417	0.962000	0.40283	0.519000	0.34347	5.890000	0.69774	1.971000	0.57363	0.454000	0.30748	.		0.323	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	Intron	7	162	0	0	0	1	0	7	162				
PARN	5073	broad.mit.edu	37	16	14540777	14540777	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:14540777A>T	ENST00000437198.2	-	23	1973	c.1832T>A	c.(1831-1833)tTa>tAa	p.L611*	PARN_ENST00000539279.1_Nonsense_Mutation_p.L436*|PARN_ENST00000341484.7_Nonsense_Mutation_p.L550*|PARN_ENST00000420015.2_Nonsense_Mutation_p.L565*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	611					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CATTCTTTTTAATTTCTTGGC	0.478																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1831-1833)tTa>tAa		poly(A)-specific ribonuclease							125.0	121.0	122.0					16																	14540777		1836	4082	5918	SO:0001587	stop_gained	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14540777A>T	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1832T>A	16.37:g.14540777A>T	ENSP00000387911:p.Leu611*		Somatic				PARN_ENST00000539279.1_Nonsense_Mutation_p.L436*|PARN_ENST00000420015.2_Nonsense_Mutation_p.L565*|PARN_ENST00000341484.7_Nonsense_Mutation_p.L550*	p.L611*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	WXS	Illumina GAIIx	Phase_I	O95453	PARN_HUMAN			23	1973	-			611					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Nonsense_Mutation	SNP	ENST00000437198.2	37	c.1832T>A	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	A	32	5.167726	0.94768	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.66	3.25	0.37280	.	1.031000	0.07648	N	0.931457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0472	11.1707	0.48569	0.7126:0.2874:0.0:0.0	.	.	.	.	X	611;550;565;436	.	ENSP00000345456:L550X	L	-	2	0	PARN	14448278	0.934000	0.31675	0.970000	0.41538	0.998000	0.95712	1.915000	0.39976	1.045000	0.40225	0.533000	0.62120	TTA		0.478	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		5	227	0	0	0	1	0	5	227				
LPCAT2	54947	broad.mit.edu	37	16	55584859	55584859	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:55584859A>T	ENST00000262134.5	+	11	1245		c.e11-1			NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2						glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TTGTTTGTTTAGATTAGATTG	0.313																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.e11-1		lysophosphatidylcholine acyltransferase 2							99.0	103.0	101.0					16																	55584859		2198	4300	6498	SO:0001630	splice_region_variant	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55584859A>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1062-1A>T	16.37:g.55584859A>T			Somatic						NM_017839.4	NP_060309.2	WXS	Illumina GAIIx	Phase_I	Q7L5N7	PCAT2_HUMAN			11	1245	+								A3KBM1|Q6MZJ6|Q9NX23	Splice_Site	SNP	ENST00000262134.5	37		CCDS10753.1	.	.	.	.	.	.	.	.	.	.	A	32	5.141542	0.94560	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2484	0.82467	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LPCAT2	54142360	1.000000	0.71417	0.216000	0.23742	0.883000	0.51084	8.451000	0.90343	2.291000	0.77112	0.533000	0.62120	.		0.313	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	Intron	5	299	0	0	0	1	0	5	299				
BBS2	583	broad.mit.edu	37	16	56530916	56530916	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:56530916G>A	ENST00000245157.5	-	15	2293	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	BBS2_ENST00000568104.1_Silent_p.L579L	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	625					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCTCCGACCAGCAAACTTCGG	0.443									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1873-1875)Ctg>Ttg		Bardet-Biedl syndrome 2							159.0	138.0	145.0					16																	56530916		2198	4300	6498	SO:0001819	synonymous_variant	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56530916G>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1873C>T	16.37:g.56530916G>A			Somatic				BBS2_ENST00000568104.1_Silent_p.L579L	p.L625L	NM_031885.3	NP_114091.3	WXS	Illumina GAIIx	Phase_I	Q9BXC9	BBS2_HUMAN			15	2293	-			625					Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	c.1873C>T	CCDS32451.1																																																																																				0.443	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		6	847	0	0	0	1	0	6	847				
PAX3	5077	broad.mit.edu	37	2	223066658	223066658	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:223066658C>T	ENST00000350526.4	-	8	1561	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	475					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTCCAAGGCTTACTTTGTC	0.478			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1423-1425)aaG>aaA		paired box 3							87.0	84.0	85.0					2																	223066658		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066658C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1425G>A	2.37:g.223066658C>T			Somatic				PAX3_ENST00000392070.2_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000336840.6_Intron	p.K475K	NM_181457.3	NP_852122.1	WXS	Illumina GAIIx	Phase_I	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1561	-		Renal(207;0.0183)	475					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.1425G>A	CCDS42826.1																																																																																				0.478	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			17	81	0	0	0	1	0	17	81				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			7	432	0	0	0	1	0	7	432				
TRMT6	51605	broad.mit.edu	37	20	5924825	5924825	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:5924825A>T	ENST00000203001.2	-	4	571	c.441T>A	c.(439-441)atT>atA	p.I147I	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	147					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TCTTCTTTTTAATATATTTAT	0.234																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(439-441)atT>atA		tRNA methyltransferase 6 homolog (S. cerevisiae)							15.0	15.0	15.0					20																	5924825		2105	4210	6315	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5924825A>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.441T>A	20.37:g.5924825A>T			Somatic				TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	p.I147I	NM_015939.3	NP_057023.2	WXS	Illumina GAIIx	Phase_I	Q9UJA5	TRM6_HUMAN			4	571	-			147					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.441T>A	CCDS13093.1																																																																																				0.234	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			3	32	0	0	0	1	0	3	32				
SIGLEC16	400709	broad.mit.edu	37	19	50473431	50473431	+	RNA	SNP	T	T	G	rs67889261		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:50473431T>G	ENST00000602139.1	+	0	432							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CGTGAACAATTTGTTCTAAAA	0.547																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473431T>G	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473431T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	432	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	G	5.206	0.223454	0.09863	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	1.92	0.25849	.	6.233510	0.00166	N	0.000002	T	0.33933	0.0880	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29181	-1.0020	6	0.34782	T	0.22	.	5.8736	0.18816	0.0:0.0:0.0:1.0	.	.	.	.	V	147;135	.	ENSP00000396157:L147V	L	+	1	2	SIGLEC16	55165243	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.418000	0.34782	1.148000	0.42385	0.332000	0.21555	TTG		0.547	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		3	13	0	0	0	1	0	3	13				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T			Somatic				TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA				WXS	Illumina GAIIx	Phase_I					2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	3	87	0	0	0	1	0	3	87				
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(757-759)Att>Ttt		olfactory receptor, family 4, subfamily A, member 47							210.0	203.0	206.0					11																	48511101		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511101A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.757A>T	11.37:g.48511101A>T	ENSP00000412752:p.Ile253Phe		Somatic					p.I253F	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	833	+			253						Missense_Mutation	SNP	ENST00000446524.1	37	c.757A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.88	2.071358	0.36566	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.112422	0.39759	N	0.001267	T	0.53254	0.1785	L	0.49256	1.55	0.34554	D	0.711651	D	0.71674	0.998	D	0.70935	0.971	T	0.66284	-0.5962	10	0.87932	D	0	.	7.5947	0.28041	0.8099:0.0:0.0:0.1901	.	253	Q6IF82	O4A47_HUMAN	F	253	ENSP00000412752:I253F	ENSP00000412752:I253F	I	+	1	0	OR4A47	48467677	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	0.243000	0.18106	1.692000	0.51112	0.172000	0.16884	ATT		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		9	1153	0	0	0	1	0	9	1153				
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(3145-3147)acT>acA		CCAAT/enhancer binding protein (C/EBP), zeta							37.0	37.0	37.0					2																	37428925		2203	4299	6502	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37428925A>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3147T>A	2.37:g.37428925A>T			Somatic				AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron	p.T1049T	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			16	3292	-		all_hematologic(82;0.21)	1049					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.3147T>A	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		3	22	0	0	0	1	0	3	22				
TANGO6	79613	broad.mit.edu	37	16	68934341	68934341	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:68934341A>T	ENST00000261778.1	+	8	1394	c.1382A>T	c.(1381-1383)tAc>tTc	p.Y461F		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	461						integral component of membrane (GO:0016021)											TTCTAGGTGTACGTGGTTGGG	0.458																																						ENST00000261778.1																			0											c.(1381-1383)tAc>tTc		transport and golgi organization 6 homolog (Drosophila)							216.0	204.0	208.0					16																	68934341		1936	4150	6086	SO:0001583	missense	79613							g.chr16:68934341A>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1382A>T	16.37:g.68934341A>T	ENSP00000261778:p.Tyr461Phe		Somatic					p.Y461F	NM_024562.1	NP_078838.1	WXS	Illumina GAIIx	Phase_I					8	1394	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.1382A>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	5.558	0.287865	0.10513	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.76	-1.62	0.08372	.	.	.	.	.	T	0.22322	0.0538	L	0.32530	0.975	0.09310	N	0.99999	B	0.09022	0.002	B	0.06405	0.002	T	0.27191	-1.0081	8	0.10636	T	0.68	0.3923	2.2982	0.04155	0.5441:0.1114:0.2235:0.121	.	461	Q9C0B7	TMCO7_HUMAN	F	461	.	ENSP00000261778:Y461F	Y	+	2	0	TMCO7	67491842	0.564000	0.26602	0.154000	0.22540	0.798000	0.45092	1.009000	0.29886	-0.139000	0.11414	0.460000	0.39030	TAC		0.458	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		6	305	0	0	0	1	0	6	305				
DNAH2	146754	broad.mit.edu	37	17	7667441	7667441	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:7667441C>T	ENST00000572933.1	+	20	4646	c.3186C>T	c.(3184-3186)agC>agT	p.S1062S	DNAH2_ENST00000389173.2_Silent_p.S1062S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1062	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGAATCAGCCGCCCTCCGC	0.647																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3184-3186)agC>agT		dynein, axonemal, heavy chain 2							70.0	67.0	68.0					17																	7667441		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667441C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3186C>T	17.37:g.7667441C>T			Somatic				DNAH2_ENST00000389173.2_Silent_p.S1062S	p.S1062S			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			20	4646	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1062			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.3186C>T	CCDS32551.1																																																																																				0.647	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	312	0	0	0	1	0	5	312				
CATSPERG	57828	broad.mit.edu	37	19	38853184	38853184	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:38853184G>C	ENST00000409235.3	+	19	2441	c.2326G>C	c.(2326-2328)Ggc>Cgc	p.G776R	CATSPERG_ENST00000410018.1_Missense_Mutation_p.G736R|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	776					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTCGGCGCAGGGCCACTCGTT	0.642																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2326-2328)Ggc>Cgc		catsper channel auxiliary subunit gamma							46.0	43.0	44.0					19																	38853184		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853184G>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2326G>C	19.37:g.38853184G>C	ENSP00000386962:p.Gly776Arg		Somatic				CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.G736R	p.G776R	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	Q6ZRH7	CTSRG_HUMAN			19	2441	+			776					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2326G>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	6.703	0.498278	0.12762	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.30714	1.52;1.52	3.73	-2.06	0.07298	.	3.563450	0.01550	N	0.019624	T	0.26448	0.0646	L	0.51422	1.61	0.09310	N	0.999996	B;B	0.29162	0.235;0.023	B;B	0.31016	0.123;0.067	T	0.08289	-1.0729	10	0.17832	T	0.49	-4.3188	4.8926	0.13735	0.3944:0.1661:0.4396:0.0	.	776;736	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	R	736;776;776	ENSP00000387057:G736R;ENSP00000386962:G776R	ENSP00000386962:G776R	G	+	1	0	CATSPERG	43545024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.144000	0.16135	-0.397000	0.07691	-1.598000	0.00824	GGC		0.642	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		11	206	0	0	0	1	0	11	206				
OR2G6	391211	broad.mit.edu	37	1	248685494	248685494	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:248685494G>A	ENST00000343414.4	+	1	579	c.547G>A	c.(547-549)Gtg>Atg	p.V183M		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGGTGCCAGTGCTCATCAA	0.512																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(547-549)Gtg>Atg		olfactory receptor, family 2, subfamily G, member 6							121.0	114.0	116.0					1																	248685494		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685494G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.547G>A	1.37:g.248685494G>A	ENSP00000341291:p.Val183Met		Somatic					p.V183M	NM_001013355.1	NP_001013373.1	WXS	Illumina GAIIx	Phase_I	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	579	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	183					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.547G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	14.35	2.509149	0.44660	.	.	ENSG00000188558	ENST00000343414	T	0.00099	8.73	3.68	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.179946	0.26268	U	0.025342	T	0.00241	0.0007	M	0.66939	2.045	0.09310	N	1	P	0.45957	0.869	P	0.48425	0.577	T	0.36915	-0.9728	10	0.87932	D	0	.	6.987	0.24733	0.0:0.314:0.5147:0.1713	.	183	Q5TZ20	OR2G6_HUMAN	M	183	ENSP00000341291:V183M	ENSP00000341291:V183M	V	+	1	0	OR2G6	246752117	0.000000	0.05858	0.988000	0.46212	0.926000	0.56050	-0.386000	0.07370	1.869000	0.54173	0.400000	0.26472	GTG		0.512	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		3	153	0	0	0	1	0	3	153				
DEFB126	81623	broad.mit.edu	37	20	126121	126121	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:126121G>C	ENST00000382398.3	+	2	384	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	42					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAAACCTGAAGAGATGCATGT	0.398																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(124-126)Gag>Cag		defensin, beta 126							177.0	162.0	167.0					20																	126121		2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126121G>C		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.124G>C	20.37:g.126121G>C	ENSP00000371835:p.Glu42Gln		Somatic				DEFB126_ENST00000542572.1_3'UTR	p.E42Q	NM_030931.2	NP_112193.1	WXS	Illumina GAIIx	Phase_I	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	384	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	42					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.124G>C	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875062	0.51695	.	.	ENSG00000125788	ENST00000382398	T	0.73363	-0.74	3.74	3.74	0.42951	.	0.000000	0.47455	D	0.000230	T	0.75012	0.3792	N	0.19112	0.55	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.65804	-0.6079	10	0.87932	D	0	-44.0165	11.3542	0.49607	0.0:0.0:1.0:0.0	.	42	Q9BYW3	DB126_HUMAN	Q	42	ENSP00000371835:E42Q	ENSP00000371835:E42Q	E	+	1	0	DEFB126	74121	0.943000	0.32029	0.194000	0.23346	0.004000	0.04260	3.056000	0.49923	2.371000	0.80710	0.561000	0.74099	GAG		0.398	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		5	539	0	0	0	1	0	5	539				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T			Somatic				DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site		NM_025000.3	NP_079276.2	WXS	Illumina GAIIx	Phase_I	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	4	162	0	0	0	1	0	4	162				
MKL2	57496	broad.mit.edu	37	16	14345845	14345845	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:14345845C>T	ENST00000341243.5	+	12	2497	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S	MKL2_ENST00000571589.1_Missense_Mutation_p.P844S|MKL2_ENST00000574045.1_Missense_Mutation_p.P794S|MKL2_ENST00000318282.5_Missense_Mutation_p.P794S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	833					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTCCGCTTCCATCCCTGCA	0.498																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2530-2532)Cca>Tca		MKL/myocardin-like 2							98.0	89.0	92.0					16																	14345845		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14345845C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2497C>T	16.37:g.14345845C>T	ENSP00000345841:p.Pro833Ser		Somatic				MKL2_ENST00000574045.1_Missense_Mutation_p.P794S|MKL2_ENST00000341243.5_Missense_Mutation_p.P833S|MKL2_ENST00000318282.5_Missense_Mutation_p.P794S	p.P844S	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			14	2702	+			833					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2530C>T		.	.	.	.	.	.	.	.	.	.	C	10.19	1.281422	0.23392	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.63	-1.93	0.07594	.	0.404445	0.29624	N	0.011633	T	0.22244	0.0536	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.18310	0.001;0.027	B;B	0.16289	0.003;0.015	T	0.11372	-1.0590	9	0.49607	T	0.09	-3.2994	7.3367	0.26613	0.0:0.3786:0.4167:0.2047	.	844;794	B4DGT8;Q9ULH7-4	.;.	S	794;833	.	ENSP00000339086:P794S	P	+	1	0	MKL2	14253346	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	0.382000	0.20635	-0.266000	0.09339	-0.744000	0.03518	CCA		0.498	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		57	247	0	0	0	1	0	57	247				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(400-402)ttA>ttT		SMG7 nonsense mediated mRNA decay factor							78.0	83.0	81.0					1																	183495733		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495733A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.315A>T	1.37:g.183495733A>T	ENSP00000340766:p.Leu105Phe		Somatic				SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F	p.L134F			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	597	+			105					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.402A>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209266	0.58343	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.61	3.26	0.37387	Telomerase activating protein Est1 (1);	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	M	0.70275	2.135	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.999;1.0;1.0	T	0.14144	-1.0483	10	0.51188	T	0.08	-6.5871	5.7363	0.18069	0.7332:0.0:0.1402:0.1266	.	63;134;63;105;105;105	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	63;134;63;63;105;105;105	ENSP00000407629:L63F;ENSP00000356507:L134F;ENSP00000426915:L63F;ENSP00000388390:L63F;ENSP00000340766:L105F;ENSP00000425133:L105F;ENSP00000421358:L105F	ENSP00000340766:L105F	L	+	3	2	SMG7	181762356	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.431000	0.44775	1.056000	0.40484	0.533000	0.62120	TTA		0.348	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	158	0	0	0	1	0	4	158				
FIGN	55137	broad.mit.edu	37	2	164466457	164466457	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:164466457C>A	ENST00000333129.3	-	3	2199	c.1885G>T	c.(1885-1887)Gcc>Tcc	p.A629S	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	629					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTACTGGTGGCACAAATTACT	0.448																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1885-1887)Gcc>Tcc		fidgetin							129.0	122.0	124.0					2																	164466457		1957	4145	6102	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466457C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1885G>T	2.37:g.164466457C>A	ENSP00000333836:p.Ala629Ser		Somatic				FIGN_ENST00000409634.1_Intron	p.A629S	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	2199	-			629					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1885G>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667593	0.47677	.	.	ENSG00000182263	ENST00000333129	D	0.95724	-3.79	5.77	5.77	0.91146	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.054669	0.64402	D	0.000001	D	0.96571	0.8881	L	0.38733	1.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96858	0.9630	10	0.62326	D	0.03	-22.4706	19.9926	0.97371	0.0:1.0:0.0:0.0	.	629	Q5HY92	FIGN_HUMAN	S	629	ENSP00000333836:A629S	ENSP00000333836:A629S	A	-	1	0	FIGN	164174703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.115000	0.57865	2.729000	0.93468	0.467000	0.42956	GCC		0.448	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		5	389	1	0	0.00198382	1	0.00198382	5	389				
ACSBG2	81616	broad.mit.edu	37	19	6177251	6177251	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:6177251T>G	ENST00000586696.1	+	8	1026	c.750T>G	c.(748-750)atT>atG	p.I250M	ACSBG2_ENST00000252669.5_Missense_Mutation_p.I250M|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I63M|ACSBG2_ENST00000588304.1_Missense_Mutation_p.I200M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I250M			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	250					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.I250M(3)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGGATTGCAGGAGCAG	0.433																																						ENST00000588304.1																			3	Substitution - Missense(3)	p.I250M(3)	endometrium(2)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(598-600)atT>atG		acyl-CoA synthetase bubblegum family member 2							97.0	69.0	78.0					19																	6177251		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6177251T>G		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.750T>G	19.37:g.6177251T>G	ENSP00000465589:p.Ile250Met		Somatic				ACSBG2_ENST00000591403.1_Missense_Mutation_p.I250M|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I63M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I250M|ACSBG2_ENST00000586696.1_Missense_Mutation_p.I250M	p.I200M			WXS	Illumina GAIIx	Phase_I	Q5FVE4	ACBG2_HUMAN			8	1046	+			250					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.600T>G	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	T	8.593	0.885063	0.17540	.	.	ENSG00000130377	ENST00000252669	T	0.10477	2.87	4.48	-8.78	0.00824	AMP-dependent synthetase/ligase (1);	1.500690	0.04439	N	0.370611	T	0.03564	0.0102	N	0.03154	-0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.007	T	0.41124	-0.9526	10	0.49607	T	0.09	-6.8573	2.6506	0.04998	0.499:0.0951:0.1226:0.2833	.	250;250	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	M	250	ENSP00000252669:I250M	ENSP00000252669:I250M	I	+	3	3	ACSBG2	6128251	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.884000	0.00342	-1.157000	0.02815	-0.778000	0.03378	ATT		0.433	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		3	117	0	0	0	1	0	3	117				
PIAS1	8554	broad.mit.edu	37	15	68480158	68480158	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:68480158T>G	ENST00000249636.6	+	14	2089	c.1941T>G	c.(1939-1941)atT>atG	p.I647M	PIAS1_ENST00000545237.1_Missense_Mutation_p.I649M	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	647					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TACCAGACATTATTTCATTGG	0.502																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1945-1947)atT>atG		protein inhibitor of activated STAT, 1							44.0	45.0	45.0					15																	68480158		2078	4223	6301	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68480158T>G	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1941T>G	15.37:g.68480158T>G	ENSP00000249636:p.Ile647Met		Somatic				PIAS1_ENST00000249636.6_Missense_Mutation_p.I647M	p.I649M			WXS	Illumina GAIIx	Phase_I	O75925	PIAS1_HUMAN			15	2688	+			647					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1947T>G	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631754	0.29068	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.38401	1.15;1.14	5.73	-1.28	0.09318	.	0.060115	0.64402	D	0.000001	T	0.20740	0.0499	L	0.32530	0.975	0.37924	D	0.931779	B	0.29716	0.255	B	0.23574	0.047	T	0.02983	-1.1086	10	0.87932	D	0	-13.6017	5.7558	0.18172	0.1122:0.2742:0.0:0.6136	.	647	O75925	PIAS1_HUMAN	M	647;649	ENSP00000249636:I647M;ENSP00000438574:I649M	ENSP00000249636:I647M	I	+	3	3	PIAS1	66267212	1.000000	0.71417	0.976000	0.42696	0.863000	0.49368	0.523000	0.22925	-0.483000	0.06772	0.533000	0.62120	ATT		0.502	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			10	47	0	0	0	1	0	10	47				
PEX6	5190	broad.mit.edu	37	6	42946220	42946220	+	Silent	SNP	C	C	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:42946220C>A	ENST00000304611.8	-	1	738	c.669G>T	c.(667-669)gtG>gtT	p.V223V	PEX6_ENST00000244546.4_Silent_p.V223V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	223					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGGCCACCCACACCCATTCGC	0.622																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(667-669)gtG>gtT		peroxisomal biogenesis factor 6							53.0	52.0	52.0					6																	42946220		2203	4300	6503	SO:0001819	synonymous_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42946220C>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.669G>T	6.37:g.42946220C>A			Somatic				PEX6_ENST00000244546.4_Silent_p.V223V	p.V223V	NM_000287.3	NP_000278.3	WXS	Illumina GAIIx	Phase_I	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		1	738	-			223					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	c.669G>T	CCDS4877.1																																																																																				0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		47	59	1	0	2.52991e-16	1	2.69025e-16	47	59				
F5	2153	broad.mit.edu	37	1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:169510405C>A	ENST00000367797.3	-	13	4124	c.3923G>T	c.(3922-3924)aGt>aTt	p.S1308I	F5_ENST00000367796.3_Missense_Mutation_p.S1313I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3937-3939)aGt>aTt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						272.0	296.0	288.0					1																	169510405		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510405C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3923G>T	1.37:g.169510405C>A	ENSP00000356771:p.Ser1308Ile		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.S1308I	p.S1313I			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			13	4139	-	all_hematologic(923;0.208)		1308			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3938G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864337	0.32977	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	3.21	-2.1	0.07210	.	1.723450	0.02512	N	0.091650	T	0.13372	0.0324	L	0.55990	1.75	0.22199	N	0.999294	P	0.45283	0.855	B	0.38327	0.271	T	0.14008	-1.0488	9	0.40728	T	0.16	.	5.0898	0.14702	0.0:0.4556:0.315:0.2294	.	1308	P12259	FA5_HUMAN	I	1308;1313	ENSP00000356771:S1308I;ENSP00000356770:S1313I	ENSP00000356770:S1313I	S	-	2	0	F5	167777029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.937000	0.00685	-0.282000	0.09128	0.542000	0.68232	AGT		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		6	786	1	0	0.00198382	1	0.00198382	6	786				
TMOD2	29767	broad.mit.edu	37	15	52074920	52074920	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:52074920C>T	ENST00000249700.4	+	7	848	c.627C>T	c.(625-627)aaC>aaT	p.N209N	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.N165N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	209					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGTCTTAGAACATTCCAATTC	0.478																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(625-627)aaC>aaT		tropomodulin 2 (neuronal)							158.0	160.0	159.0					15																	52074920		2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52074920C>T	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.627C>T	15.37:g.52074920C>T			Somatic				TMOD2_ENST00000539962.2_Silent_p.N165N|TMOD2_ENST00000435126.2_Intron	p.N209N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	WXS	Illumina GAIIx	Phase_I	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	7	848	+			209					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.627C>T	CCDS10144.1																																																																																				0.478	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			10	374	0	0	0	1	0	10	374				
IL26	55801	broad.mit.edu	37	12	68619252	68619252	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:68619252A>T	ENST00000229134.4	-	2	264	c.200T>A	c.(199-201)tTa>tAa	p.L67*	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	67					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTCTTTTTTAATAATCGTAT	0.284																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(199-201)tTa>tAa		interleukin 26							44.0	47.0	46.0					12																	68619252		2183	4298	6481	SO:0001587	stop_gained	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619252A>T	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.200T>A	12.37:g.68619252A>T	ENSP00000229134:p.Leu67*		Somatic				IFNG-AS1_ENST00000536914.1_RNA	p.L67*	NM_018402.1	NP_060872.1	WXS	Illumina GAIIx	Phase_I	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	2	264	-			67						Nonsense_Mutation	SNP	ENST00000229134.4	37	c.200T>A	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	A	35	5.574699	0.96553	.	.	ENSG00000111536	ENST00000229134	.	.	.	5.08	5.08	0.68730	.	0.000000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7093	12.5229	0.56069	1.0:0.0:0.0:0.0	.	.	.	.	X	67	.	.	L	-	2	0	IL26	66905519	0.989000	0.36119	0.614000	0.29051	0.879000	0.50718	4.925000	0.63425	2.051000	0.60960	0.379000	0.24179	TTA		0.284	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		4	128	0	0	0	1	0	4	128				
CCT4	10575	broad.mit.edu	37	2	62099298	62099298	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:62099298G>A	ENST00000394440.3	-	12	1706	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Silent_p.G320G|CCT4_ENST00000544079.1_Silent_p.G440G|CCT4_ENST00000538252.1_Silent_p.G414G	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	470					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TGGGATTCAGGCCGGCATTTT	0.433																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1408-1410)ggC>ggT		chaperonin containing TCP1, subunit 4 (delta)							102.0	100.0	101.0					2																	62099298		2203	4300	6503	SO:0001819	synonymous_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099298G>A		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1410C>T	2.37:g.62099298G>A			Somatic				CCT4_ENST00000544079.1_Silent_p.G440G|CCT4_ENST00000544185.1_Silent_p.G320G|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Silent_p.G414G|AC107081.5_ENST00000425779.1_RNA	p.G470G	NM_006430.3	NP_006421.2	WXS	Illumina GAIIx	Phase_I	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		12	1706	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		470					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	c.1410C>T	CCDS33206.1																																																																																				0.433	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			3	98	0	0	0	1	0	3	98				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		3	37	0	0	0	1	0	3	37				
CENPJ	55835	broad.mit.edu	37	13	25458526	25458526	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:25458526C>T	ENST00000381884.4	-	14	3738	c.3553G>A	c.(3553-3555)Ggg>Agg	p.G1185R	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1185					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATGGTCTTCCCATCTGCACTC	0.423																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3553-3555)Ggg>Agg		centromere protein J							141.0	128.0	133.0					13																	25458526		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25458526C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3553G>A	13.37:g.25458526C>T	ENSP00000371308:p.Gly1185Arg		Somatic				CENPJ_ENST00000545981.1_3'UTR	p.G1185R	NM_018451.4	NP_060921.3	WXS	Illumina GAIIx	Phase_I	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	14	3738	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1185					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3553G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218412	0.79464	.	.	ENSG00000151849	ENST00000381884	T	0.79653	-1.29	5.93	4.14	0.48551	.	0.095226	0.64402	D	0.000001	D	0.87637	0.6227	M	0.80616	2.505	0.80722	D	1	D	0.54397	0.966	P	0.62885	0.908	D	0.86770	0.1972	10	0.51188	T	0.08	.	10.541	0.45033	0.0:0.834:0.0:0.166	.	1185	Q9HC77	CENPJ_HUMAN	R	1185	ENSP00000371308:G1185R	ENSP00000371308:G1185R	G	-	1	0	CENPJ	24356526	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.332000	0.59279	0.777000	0.33496	0.561000	0.74099	GGG		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		5	295	0	0	0	1	0	5	295				
POC1A	25886	broad.mit.edu	37	3	52181050	52181050	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:52181050C>T	ENST00000296484.2	-	5	556	c.517G>A	c.(517-519)Gac>Aac	p.D173N	POC1A_ENST00000474012.1_Missense_Mutation_p.D135N|POC1A_ENST00000394970.2_Missense_Mutation_p.D173N	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	173					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CTGCTCTTGTCCCACAGCTTA	0.577																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(517-519)Gac>Aac		POC1 centriolar protein A							111.0	100.0	104.0					3																	52181050		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52181050C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.517G>A	3.37:g.52181050C>T	ENSP00000296484:p.Asp173Asn		Somatic				POC1A_ENST00000296484.2_Missense_Mutation_p.D173N|POC1A_ENST00000474012.1_Missense_Mutation_p.D135N	p.D173N	NM_001161580.1	NP_001155052.1	WXS	Illumina GAIIx	Phase_I	Q8NBT0	POC1A_HUMAN			5	834	-			173					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.517G>A	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527908	0.96446	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.68025	-0.3;-0.3;-0.3	5.13	5.13	0.70059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	N	0.05619	-0.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74237	-0.3730	10	0.48119	T	0.1	.	18.5557	0.91083	0.0:1.0:0.0:0.0	.	173;173	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	N	173;173;135	ENSP00000296484:D173N;ENSP00000378421:D173N;ENSP00000418968:D135N	ENSP00000296484:D173N	D	-	1	0	POC1A	52156090	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.654000	0.83653	2.555000	0.86185	0.563000	0.77884	GAC		0.577	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		12	99	0	0	0	1	0	12	99				
COL8A1	1295	broad.mit.edu	37	3	99514149	99514149	+	Silent	SNP	T	T	G	rs144636435		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:99514149T>G	ENST00000261037.3	+	5	1784	c.1404T>G	c.(1402-1404)ggT>ggG	p.G468G	COL8A1_ENST00000273342.4_Silent_p.G468G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	468	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCAAAAAGGTGTACCAGGAC	0.607																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1402-1404)ggT>ggG		collagen, type VIII, alpha 1							25.0	23.0	24.0					3																	99514149		2203	4298	6501	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514149T>G	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1404T>G	3.37:g.99514149T>G			Somatic				COL8A1_ENST00000273342.4_Silent_p.G468G	p.G468G	NM_001850.4	NP_001841.2	WXS	Illumina GAIIx	Phase_I	P27658	CO8A1_HUMAN			5	1784	+			468			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.1404T>G	CCDS2934.1																																																																																				0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		4	40	0	0	0	1	0	4	40				
MRO	83876	broad.mit.edu	37	18	48335776	48335776	+	Splice_Site	SNP	T	T	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr18:48335776T>A	ENST00000428869.2	-	4	255		c.e4-2		MRO_ENST00000256425.2_Splice_Site|MRO_ENST00000436348.2_Intron|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Splice_Site|MRO_ENST00000398439.3_Splice_Site|MRO_ENST00000431965.2_Intron			Q9BYG7	MSTRO_HUMAN	maestro							nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCCATGGAACTAAAAACAAAA	0.428																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.e4-2		maestro							73.0	68.0	69.0					18																	48335776		2203	4300	6503	SO:0001630	splice_region_variant	83876					nucleolus	binding	g.chr18:48335776T>A	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.4-2A>T	18.37:g.48335776T>A			Somatic				MRO_ENST00000588444.1_Splice_Site|MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Splice_Site|MRO_ENST00000398439.3_Splice_Site|MRO_ENST00000436348.2_Intron|MRO_ENST00000587291.1_Intron				WXS	Illumina GAIIx	Phase_I	Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	4	255	-		Colorectal(6;0.0596)						B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Splice_Site	SNP	ENST00000428869.2	37		CCDS11947.1																																																																																				0.428	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939	Intron	4	68	0	0	0	1	0	4	68				
OSBPL11	114885	broad.mit.edu	37	3	125271258	125271258	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:125271258C>A	ENST00000296220.5	-	9	1710	c.1421G>T	c.(1420-1422)aGc>aTc	p.S474I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	474					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GGAAGAACTGCTAAAAACACT	0.453																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1420-1422)aGc>aTc		oxysterol binding protein-like 11							99.0	90.0	93.0					3																	125271258		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271258C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1421G>T	3.37:g.125271258C>A	ENSP00000296220:p.Ser474Ile		Somatic					p.S474I	NM_022776.4	NP_073613.2	WXS	Illumina GAIIx	Phase_I	Q9BXB4	OSB11_HUMAN			9	1710	-			474					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1421G>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864415	0.32977	.	.	ENSG00000144909	ENST00000296220	T	0.20200	2.09	4.54	1.58	0.23477	.	0.722813	0.14298	N	0.328449	T	0.11324	0.0276	N	0.08118	0	0.24654	N	0.993506	B	0.24043	0.096	B	0.30029	0.11	T	0.29822	-0.9999	10	0.46703	T	0.11	-9.759	8.724	0.34458	0.0:0.6547:0.1992:0.1461	.	474	Q9BXB4	OSB11_HUMAN	I	474	ENSP00000296220:S474I	ENSP00000296220:S474I	S	-	2	0	OSBPL11	126753948	0.988000	0.35896	0.681000	0.30009	0.935000	0.57460	1.172000	0.31908	0.665000	0.31066	-0.216000	0.12614	AGC		0.453	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		8	150	1	0	5.18039e-06	1	5.3578e-06	8	150				
CA13	377677	broad.mit.edu	37	8	86163153	86163153	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr8:86163153A>T	ENST00000321764.3	+	2	524	c.222A>T	c.(220-222)acA>acT	p.T74T	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	74					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TTGATGACACAGAGAACAAAT	0.383																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(220-222)acA>acT		carbonic anhydrase XIII							153.0	155.0	155.0					8																	86163153		2203	4299	6502	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163153A>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.222A>T	8.37:g.86163153A>T			Somatic				CA13_ENST00000517298.1_3'UTR	p.T74T	NM_198584.2	NP_940986.1	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			2	524	+			74						Silent	SNP	ENST00000321764.3	37	c.222A>T	CCDS6236.1																																																																																				0.383	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		141	218	0	0	0	1	0	141	218				
PRDM8	56978	broad.mit.edu	37	4	81123132	81123132	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:81123132G>A	ENST00000504452.1	+	8	1355	c.516G>A	c.(514-516)gcG>gcA	p.A172A	PRDM8_ENST00000339711.4_Silent_p.A172A|PRDM8_ENST00000415738.2_Silent_p.A172A			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	172					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCTATGTGGCGCATCTGCGTT	0.597											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(514-516)gcG>gcA		PR domain containing 8							125.0	136.0	132.0					4																	81123132		2136	4235	6371	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123132G>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.516G>A	4.37:g.81123132G>A			Somatic	OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.A172A|PRDM8_ENST00000415738.2_Silent_p.A172A	p.A172A	NM_020226.3	NP_064611.3	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			10	1747	+			172					A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.516G>A	CCDS43243.1																																																																																				0.597	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			5	282	0	0	0	1	0	5	282				
PPM1G	5496	broad.mit.edu	37	2	27606364	27606364	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:27606364C>T	ENST00000344034.4	-	7	1334	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.G357D	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	357					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TAAAGCTTTGCCAGCCTCAGA	0.527																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1069-1071)gGc>gAc		protein phosphatase, Mg2+/Mn2+ dependent, 1G							136.0	121.0	126.0					2																	27606364		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27606364C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1070G>A	2.37:g.27606364C>T	ENSP00000342778:p.Gly357Asp		Somatic				PPM1G_ENST00000350803.4_Missense_Mutation_p.G357D	p.G357D	NM_177983.2	NP_817092.1	WXS	Illumina GAIIx	Phase_I	O15355	PPM1G_HUMAN			7	1334	-	Acute lymphoblastic leukemia(172;0.155)		357						Missense_Mutation	SNP	ENST00000344034.4	37	c.1070G>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265606	0.80358	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.13778	2.56;2.56	5.24	5.24	0.73138	Protein phosphatase 2C-like (5);	0.054705	0.64402	D	0.000001	T	0.39809	0.1092	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.91635	0.805;0.999	T	0.24799	-1.0150	10	0.72032	D	0.01	-8.67	17.3881	0.87422	0.0:1.0:0.0:0.0	.	158;357	Q59GB2;O15355	.;PPM1G_HUMAN	D	357;357;340;158	ENSP00000342778:G357D;ENSP00000264714:G357D	ENSP00000342778:G357D	G	-	2	0	PPM1G	27459868	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.088000	0.76901	2.431000	0.82371	0.650000	0.86243	GGC		0.527	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		4	106	0	0	0	1	0	4	106				
OR4F15	390649	broad.mit.edu	37	15	102358493	102358493	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:102358493A>T	ENST00000332238.4	+	1	128	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTTGTTCTACTTTGCGAGC	0.423																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily F, member 15							228.0	200.0	209.0					15																	102358493		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358493A>T	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.104A>T	15.37:g.102358493A>T	ENSP00000333184:p.Tyr35Phe		Somatic					p.Y35F	NM_001001674.1	NP_001001674.1	WXS	Illumina GAIIx	Phase_I	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	128	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		35					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.104A>T	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681929	0.29872	.	.	ENSG00000182854	ENST00000332238	T	0.04406	3.63	5.43	5.43	0.79202	.	0.119782	0.38111	N	0.001819	T	0.09202	0.0227	M	0.69248	2.105	0.21355	N	0.999719	B	0.31752	0.338	B	0.36030	0.216	T	0.13737	-1.0498	9	.	.	.	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	35	Q8NGB8	O4F15_HUMAN	F	35	ENSP00000333184:Y35F	.	Y	+	2	0	OR4F15	100176016	0.978000	0.34361	0.057000	0.19452	0.227000	0.25037	3.633000	0.54295	2.277000	0.76020	0.528000	0.53228	TAC		0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		7	754	0	0	0	1	0	7	754				
MMP3	4314	broad.mit.edu	37	11	102713276	102713276	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:102713276C>T	ENST00000299855.5	-	3	641	c.385G>A	c.(385-387)Gct>Act	p.A129T		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	129					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GAATCAACAGCATCTTTTGGC	0.383																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(385-387)Gct>Act		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						110.0	111.0	111.0					11																	102713276		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713276C>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.385G>A	11.37:g.102713276C>T	ENSP00000299855:p.Ala129Thr		Somatic					p.A129T	NM_002422.3	NP_002413.1	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	3	641	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	129					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.385G>A	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660226	0.88154	.	.	ENSG00000149968	ENST00000299855	T	0.20881	2.04	6.16	4.28	0.50868	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.218004	0.23107	N	0.051860	T	0.21962	0.0529	L	0.27975	0.815	0.28310	N	0.922716	B	0.25390	0.125	B	0.39935	0.314	T	0.28138	-1.0053	10	0.72032	D	0.01	.	11.7767	0.51989	0.0:0.8585:0.0:0.1415	.	129	P08254	MMP3_HUMAN	T	129	ENSP00000299855:A129T	ENSP00000299855:A129T	A	-	1	0	MMP3	102218486	0.970000	0.33590	0.429000	0.26710	0.848000	0.48234	4.936000	0.63506	1.594000	0.50039	0.650000	0.86243	GCT		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		39	153	0	0	0	1	0	39	153				
YWHAEP7	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	G	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:36214775G>T	ENST00000590732.1	-	0	291					NR_024178.1													p.T41N(6)									CTTGCCAGTGGTAGCTGCTGG	0.353																																						ENST00000590732.1																			6	Substitution - Missense(6)	p.T41N(6)	endometrium(5)|kidney(1)																																																284100							g.chr17:36214775G>T																													17.37:g.36214775G>T			Somatic						NR_024178.1		WXS	Illumina GAIIx	Phase_I					0	291	-									RNA	SNP	ENST00000590732.1	37																																																																																						0.353	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			3	67	1	0	2.56e-06	1	2.66593e-06	3	67				
VPS41	27072	broad.mit.edu	37	7	38791915	38791915	+	Splice_Site	SNP	T	T	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:38791915T>A	ENST00000310301.4	-	22	1843		c.e22-2		VPS41_ENST00000395969.2_Splice_Site	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)						Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATGCAAATACTAAAAGGAACA	0.388																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.e22-2		vacuolar protein sorting 41 homolog (S. cerevisiae)							100.0	97.0	98.0					7																	38791915		2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38791915T>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1789-2A>T	7.37:g.38791915T>A			Somatic				VPS41_ENST00000395969.2_Splice_Site		NM_014396.3	NP_055211.2	WXS	Illumina GAIIx	Phase_I	P49754	VPS41_HUMAN			22	1843	-								E9PF36|Q86TP8|Q99851|Q99852	Splice_Site	SNP	ENST00000310301.4	37		CCDS5457.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568436	0.86439	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7202	0.77705	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS41	38758440	1.000000	0.71417	0.935000	0.37517	0.897000	0.52465	7.975000	0.88055	2.119000	0.64992	0.477000	0.44152	.		0.388	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Intron	5	214	0	0	0	1	0	5	214				
PRRC2C	23215	broad.mit.edu	37	1	171482132	171482132	+	Splice_Site	SNP	A	A	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:171482132A>T	ENST00000367742.3	+	3	354		c.e3-1		PRRC2C_ENST00000392078.3_Splice_Site|PRRC2C_ENST00000338920.4_Intron|PRRC2C_ENST00000426496.2_Intron|PRRC2C_ENST00000476522.1_Splice_Site			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C						hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATTGATCTTTAGTTGCAGCTC	0.363																																						ENST00000367742.3																			0											c.e3-1		proline-rich coiled-coil 2C							94.0	93.0	94.0					1																	171482132		2203	4300	6503	SO:0001630	splice_region_variant	23215						protein C-terminus binding	g.chr1:171482132A>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000367742.3:c.113-1A>T	1.37:g.171482132A>T			Somatic				PRRC2C_ENST00000392078.3_Splice_Site|PRRC2C_ENST00000476522.1_Splice_Site|PRRC2C_ENST00000338920.4_Intron|PRRC2C_ENST00000426496.2_Intron				WXS	Illumina GAIIx	Phase_I	Q9Y520	PRC2C_HUMAN			3	354	+								Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Splice_Site	SNP	ENST00000367742.3	37			.	.	.	.	.	.	.	.	.	.	A	24.5	4.537573	0.85917	.	.	ENSG00000117523	ENST00000392078;ENST00000367742	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5894	0.76512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2C	169748756	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.090000	0.63153	0.533000	0.62120	.		0.363	PRRC2C-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000083864.4	NM_015172	Intron	5	211	0	0	0	1	0	5	211				
TAF7	6879	broad.mit.edu	37	5	140699058	140699058	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140699058G>A	ENST00000313368.5	-	1	1272	c.554C>T	c.(553-555)gCc>gTc	p.A185V		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	185					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCTTCGGCAATTATTTC	0.423																																						ENST00000313368.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(553-555)gCc>gTc		TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa							111.0	109.0	110.0					5																	140699058		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140699058G>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.554C>T	5.37:g.140699058G>A	ENSP00000312709:p.Ala185Val		Somatic					p.A185V	NM_005642.2	NP_005633.2	WXS	Illumina GAIIx	Phase_I	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1272	-			185					B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.554C>T	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554420	0.65425	.	.	ENSG00000178913	ENST00000313368	T	0.24538	1.85	4.86	3.99	0.46301	.	0.108318	0.64402	D	0.000010	T	0.32645	0.0836	M	0.64997	1.995	0.47819	D	0.999523	P	0.50443	0.935	P	0.48368	0.575	T	0.10177	-1.0641	10	0.52906	T	0.07	-15.7139	10.7984	0.46474	0.0912:0.0:0.9088:0.0	.	185	Q15545	TAF7_HUMAN	V	185	ENSP00000312709:A185V	ENSP00000312709:A185V	A	-	2	0	TAF7	140679242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.061000	0.71148	1.429000	0.47314	0.655000	0.94253	GCC		0.423	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		3	124	0	0	0	1	0	3	124				
MYH7	4625	broad.mit.edu	37	14	23887535	23887535	+	Silent	SNP	C	C	T	rs397516200		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:23887535C>T	ENST00000355349.3	-	30	4215	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.T1351T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTGGCCTCCGTCTCCTCCT	0.672																																						ENST00000355349.3																			1	Substitution - coding silent(1)	p.T1351T(1)	lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4051-4053)acG>acA		myosin, heavy chain 7, cardiac muscle, beta							64.0	57.0	60.0					14																	23887535		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887535C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4053G>A	14.37:g.23887535C>T			Somatic					p.T1351T	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4215	-	all_cancers(95;2.54e-05)		1351					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4053G>A	CCDS9601.1																																																																																				0.672	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	66	0	0	0	1	0	3	66				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000547068.1_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T			Somatic				NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000551008.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	3	33	0	0	0	1	0	3	33				
FBXO5	26271	broad.mit.edu	37	6	153296565	153296565	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:153296565G>C	ENST00000229758.3	-	2	353	c.295C>G	c.(295-297)Ccg>Gcg	p.P99A	FBXO5_ENST00000367241.3_Missense_Mutation_p.P53A|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTCACAATCGGTGACCCAATA	0.403																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(157-159)Ccg>Gcg		F-box protein 5							158.0	155.0	156.0					6																	153296565		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296565G>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.295C>G	6.37:g.153296565G>C	ENSP00000229758:p.Pro99Ala		Somatic				FBXO5_ENST00000229758.3_Missense_Mutation_p.P99A	p.P53A	NM_001142522.1	NP_001135994.1	WXS	Illumina GAIIx	Phase_I	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	537	-		Ovarian(120;0.125)	99					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.157C>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152632	0.38021	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.30981	1.51;1.53	5.77	5.77	0.91146	.	0.620936	0.17752	N	0.163184	T	0.12008	0.0292	L	0.59436	1.845	0.28157	N	0.929134	P	0.35328	0.495	B	0.31442	0.13	T	0.18587	-1.0332	10	0.09843	T	0.71	-16.0149	11.3577	0.49625	0.1141:0.0:0.8859:0.0	.	99	Q9UKT4	FBX5_HUMAN	A	99;53	ENSP00000229758:P99A;ENSP00000356210:P53A	ENSP00000229758:P99A	P	-	1	0	FBXO5	153338258	0.758000	0.28405	0.970000	0.41538	0.879000	0.50718	1.412000	0.34714	2.729000	0.93468	0.655000	0.94253	CCG		0.403	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			4	127	0	0	0	1	0	4	127				
PGLYRP2	114770	broad.mit.edu	37	19	15586419	15586419	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:15586419C>T	ENST00000340880.4	-	2	1542	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	PGLYRP2_ENST00000292609.4_Silent_p.Q354Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	354					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCTCATGCACTGAAGCTGGA	0.582																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1060-1062)caG>caA		peptidoglycan recognition protein 2							92.0	90.0	91.0					19																	15586419		2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586419C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1062G>A	19.37:g.15586419C>T			Somatic				PGLYRP2_ENST00000340880.4_Silent_p.Q354Q	p.Q354Q			WXS	Illumina GAIIx	Phase_I	Q96PD5	PGRP2_HUMAN			2	1191	-			354					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.1062G>A	CCDS12330.2																																																																																				0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		27	319	0	0	0	1	0	27	319				
ZNF211	10520	broad.mit.edu	37	19	58152180	58152180	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:58152180C>T	ENST00000347302.3	+	3	505	c.326C>T	c.(325-327)gCc>gTc	p.A109V	ZNF211_ENST00000240731.4_Missense_Mutation_p.A122V|ZNF211_ENST00000544273.1_Missense_Mutation_p.A121V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A100V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A48V|ZNF211_ENST00000541801.1_Missense_Mutation_p.A100V|ZNF211_ENST00000299871.5_Missense_Mutation_p.A174V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A113V	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCAGAATGCCGACTCCTGT	0.453																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(361-363)gCc>gTc		zinc finger protein 211							101.0	100.0	100.0					19																	58152180		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152180C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.326C>T	19.37:g.58152180C>T	ENSP00000339562:p.Ala109Val		Somatic				ZNF211_ENST00000541801.1_Missense_Mutation_p.A100V|ZNF211_ENST00000299871.5_Missense_Mutation_p.A174V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A113V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A48V|ZNF211_ENST00000347302.3_Missense_Mutation_p.A109V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A100V|ZNF211_ENST00000240731.4_Missense_Mutation_p.A122V	p.A121V			WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	689	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	109					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.362C>T	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707845	0.68615	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.08634	3.22;3.24;3.07;3.15;3.07;3.23;3.22;3.22	4.0	0.358	0.16084	.	.	.	.	.	T	0.11410	0.0278	L	0.28556	0.865	0.09310	N	1	P;P;D;B;P;P	0.65815	0.782;0.782;0.995;0.376;0.675;0.675	B;B;P;B;B;B	0.61477	0.201;0.201;0.889;0.084;0.099;0.099	T	0.24440	-1.0160	9	0.40728	T	0.16	.	3.8913	0.09120	0.1643:0.5782:0.16:0.0975	.	113;121;174;100;109;122	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	V	113;109;100;48;100;174;121;122	ENSP00000399193:A113V;ENSP00000339562:A109V;ENSP00000254182:A100V;ENSP00000375584:A48V;ENSP00000442601:A100V;ENSP00000299871:A174V;ENSP00000441386:A121V;ENSP00000240731:A122V	ENSP00000240731:A122V	A	+	2	0	ZNF211	62843992	0.000000	0.05858	0.010000	0.14722	0.314000	0.28054	0.561000	0.23515	0.312000	0.23038	0.591000	0.81541	GCC		0.453	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	187	0	0	0	1	0	3	187				
NXF5	55998	broad.mit.edu	37	X	101095848	101095848	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:101095848C>A	ENST00000361708.2	-	9	859	c.500G>T	c.(499-501)tGc>tTc	p.C167F	NXF5_ENST00000473265.2_Missense_Mutation_p.C167F|NXF5_ENST00000537026.1_Missense_Mutation_p.C167F			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	167					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTTGTTGTTGCACAAGTTCAA	0.483																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(499-501)tGc>tTc		nuclear RNA export factor 5							108.0	91.0	97.0					X																	101095848		2201	4299	6500	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101095848C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.500G>T	X.37:g.101095848C>A	ENSP00000355286:p.Cys167Phe		Somatic				NXF5_ENST00000361708.2_Missense_Mutation_p.C167F|NXF5_ENST00000473265.2_Missense_Mutation_p.C167F	p.C167F	NM_032946.2	NP_116564.2	WXS	Illumina GAIIx	Phase_I	Q9H1B4	NXF5_HUMAN			9	859	-			167					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.500G>T		.	.	.	.	.	.	.	.	.	.	.	13.93	2.384694	0.42308	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.50548	0.74;0.74;0.74	2.05	-2.24	0.06909	.	0.385155	0.26366	U	0.024781	T	0.29882	0.0747	L	0.38175	1.15	0.22710	N	0.998826	P	0.36483	0.555	B	0.36719	0.231	T	0.17137	-1.0379	10	0.72032	D	0.01	.	4.0339	0.09721	0.0:0.4121:0.1806:0.4073	.	167	A2RRM0	.	F	167	ENSP00000442401:C167F;ENSP00000426978:C167F;ENSP00000355286:C167F	ENSP00000263032:C167F	C	-	2	0	NXF5	100982504	0.014000	0.17966	0.000000	0.03702	0.639000	0.38242	1.189000	0.32114	-0.823000	0.04301	0.267000	0.19312	TGC		0.483	NXF5-201	KNOWN	basic	protein_coding	protein_coding				36	94	1	0	1.41504e-22	0.859065	1.63273e-22	36	94				
ZBED9	114821	broad.mit.edu	37	6	28541173	28541173	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:28541173G>A	ENST00000452236.2	-	4	3110	c.2493C>T	c.(2491-2493)gcC>gcT	p.A831A	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttagacttggcaaccggaa	0.408																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2491-2493)gcC>gcT		SCAN domain containing 3							143.0	135.0	137.0					6																	28541173		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541173G>A																												ENST00000452236.2:c.2493C>T	6.37:g.28541173G>A			Somatic					p.A831A	NM_052923.1	NP_443155.1	WXS	Illumina GAIIx	Phase_I	Q6R2W3	SCND3_HUMAN			4	3110	-			831						Silent	SNP	ENST00000452236.2	37	c.2493C>T	CCDS34355.1																																																																																				0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	281	0	0	0	0.184627	0	5	281				
MYH3	4621	broad.mit.edu	37	17	10543475	10543475	+	Silent	SNP	G	G	A	rs565057862	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:10543475G>A	ENST00000583535.1	-	22	2607	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L	MYH3_ENST00000226209.7_Silent_p.L840L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	840					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACTCTTGAGGAGGGGCTTGA	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		18237	0.0		0.0	False		,,,				2504	0.002					ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(2518-2520)ctC>ctT		myosin, heavy chain 3, skeletal muscle, embryonic							140.0	130.0	133.0					17																	10543475		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543475G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2520C>T	17.37:g.10543475G>A			Somatic				MYH3_ENST00000226209.7_Silent_p.L840L	p.L840L	NM_002470.3	NP_002461.2	WXS	Illumina GAIIx	Phase_I	P11055	MYH3_HUMAN			22	2607	-			840					Q15492	Silent	SNP	ENST00000583535.1	37	c.2520C>T	CCDS11157.1																																																																																				0.473	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		11	246	0	0	0	0.361761	0	11	246				
MT-ND5	4540	broad.mit.edu	37	M	12508	12508	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrM:12508G>A	ENST00000361567.2	+	1	172	c.172G>A	c.(172-174)Gac>Aac	p.D58N	MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	58					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCATGTGCCTAGACCAAGAAG	0.398																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(172-174)Gac>Aac		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12508G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.172G>A	M.37:g.12508G>A	ENSP00000354813:p.Asp58Asn		Somatic					p.D58N			WXS	Illumina GAIIx	Phase_I	P03915	NU5M_HUMAN			1	172	+			58					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.172G>A																																																																																					0.398	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		12	326	0	0	0	0.411799	0	12	326				
HRNR	388697	broad.mit.edu	37	1	152191466	152191466	+	Missense_Mutation	SNP	C	C	T	rs376040395	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:152191466C>T	ENST00000368801.2	-	3	2714	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	880					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R880H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCGCGGCCCGAAGC	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		20954	0.0		0.001	False		,,,				2504	0.001					ENST00000368801.2																			1	Substitution - Missense(1)	p.R880H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2638-2640)cGc>cAc		hornerin		C	HIS/ARG	0,4406		0,0,2203	87.0	95.0	93.0		2639	-4.1	0.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	880/2851	152191466	1,13005	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191466C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2639G>A	1.37:g.152191466C>T	ENSP00000357791:p.Arg880His		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R880H	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2714	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		880					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2639G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078540	0.07184	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01871	4.59	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	P	0.46578	0.88	B	0.19946	0.027	T	0.49214	-0.8963	9	0.15499	T	0.54	.	4.0907	0.09968	0.0:0.2699:0.3225:0.4077	.	880	Q86YZ3	HORN_HUMAN	H	880	ENSP00000357791:R880H	ENSP00000357791:R880H	R	-	2	0	HRNR	150458090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.906000	0.00171	-2.279000	0.00676	-0.362000	0.07510	CGC		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	66	0	0	0	0.150653	0	4	66				
FGD2	221472	broad.mit.edu	37	6	36982762	36982762	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:36982762T>G	ENST00000274963.8	+	8	1148	c.977T>G	c.(976-978)gTc>gGc	p.V326G		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	326	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAGGGCCCGGTCCTCAAGATC	0.627																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(976-978)gTc>gGc		FYVE, RhoGEF and PH domain containing 2							76.0	64.0	68.0					6																	36982762		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982762T>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.977T>G	6.37:g.36982762T>G	ENSP00000274963:p.Val326Gly		Somatic					p.V326G	NM_173558.3	NP_775829.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J4	FGD2_HUMAN			8	1148	+			326			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.977T>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019696	0.54576	.	.	ENSG00000146192	ENST00000274963	D	0.89050	-2.46	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.166402	0.28555	N	0.014932	D	0.85379	0.5683	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.60415	0.874	D	0.88801	0.3285	10	0.87932	D	0	-5.5484	13.7691	0.63012	0.0:0.0:0.0:1.0	.	326	Q7Z6J4	FGD2_HUMAN	G	326	ENSP00000274963:V326G	ENSP00000274963:V326G	V	+	2	0	FGD2	37090740	0.998000	0.40836	0.475000	0.27278	0.153000	0.21895	4.857000	0.62939	1.918000	0.55548	0.459000	0.35465	GTC		0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		19	47	0	0	0	0.592651	0	19	47				
PEX6	5190	broad.mit.edu	37	6	42946220	42946220	+	Silent	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:42946220C>A	ENST00000304611.8	-	1	738	c.669G>T	c.(667-669)gtG>gtT	p.V223V	PEX6_ENST00000244546.4_Silent_p.V223V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	223					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGGCCACCCACACCCATTCGC	0.622																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(667-669)gtG>gtT		peroxisomal biogenesis factor 6							53.0	52.0	52.0					6																	42946220		2203	4300	6503	SO:0001819	synonymous_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42946220C>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.669G>T	6.37:g.42946220C>A			Somatic				PEX6_ENST00000244546.4_Silent_p.V223V	p.V223V	NM_000287.3	NP_000278.3	WXS	Illumina GAIIx	Phase_I	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		1	738	-			223					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	c.669G>T	CCDS4877.1																																																																																				0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		35	52	1	0	6.97489e-18	0.804634	7.84675e-18	35	52				
OSBPL1A	114876	broad.mit.edu	37	18	21898607	21898607	+	Silent	SNP	G	G	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr18:21898607G>C	ENST00000319481.3	-	9	896	c.690C>G	c.(688-690)gtC>gtG	p.V230V		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	230	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTTGTAGATGACCTGTCAAA	0.284																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(688-690)gtC>gtG		oxysterol binding protein-like 1A							39.0	40.0	40.0					18																	21898607		2201	4296	6497	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21898607G>C	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.690C>G	18.37:g.21898607G>C			Somatic					p.V230V	NM_080597.3	NP_542164.2	WXS	Illumina GAIIx	Phase_I	Q9BXW6	OSBL1_HUMAN			9	896	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		230					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.690C>G	CCDS11884.1																																																																																				0.284	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		6	88	0	0	0	0.248553	0	6	88				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T			Somatic					p.A526A	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	136	1	0	0.000157383	0.278610	0.000164703	5	136				
TMOD2	29767	broad.mit.edu	37	15	52074920	52074920	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:52074920C>T	ENST00000249700.4	+	7	848	c.627C>T	c.(625-627)aaC>aaT	p.N209N	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.N165N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	209					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGTCTTAGAACATTCCAATTC	0.478																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(625-627)aaC>aaT		tropomodulin 2 (neuronal)							158.0	160.0	159.0					15																	52074920		2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52074920C>T	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.627C>T	15.37:g.52074920C>T			Somatic				TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.N165N	p.N209N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	WXS	Illumina GAIIx	Phase_I	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	7	848	+			209					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.627C>T	CCDS10144.1																																																																																				0.478	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			8	247	0	0	0	0.307466	0	8	247				
PCDHA7	56141	broad.mit.edu	37	5	140215597	140215597	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140215597G>A	ENST00000525929.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P543P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1627-1629)ccG>ccA									75.0	84.0	81.0					5																	140215597		2202	4296	6498	SO:0001819	synonymous_variant	56141							g.chr5:140215597G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1629G>A	5.37:g.140215597G>A			Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.P543P	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1629G>A	CCDS54918.1																																																																																				0.692	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		8	237	0	0	0	0.361761	0	8	237				
AFF3	3899	broad.mit.edu	37	2	100199272	100199272	+	Silent	SNP	G	G	A	rs148546971	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:100199272G>A	ENST00000409236.2	-	15	2893	c.2781C>T	c.(2779-2781)ggC>ggT	p.G927G	AFF3_ENST00000356421.2_Silent_p.G952G|AFF3_ENST00000317233.4_Silent_p.G927G|AFF3_ENST00000409579.1_Silent_p.G952G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	927					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAGGTCTCCGCCGTGAGGCT	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2779-2781)ggC>ggT		AF4/FMR2 family, member 3		G	,	3,4403	6.2+/-15.9	0,3,2200	121.0	110.0	114.0		2856,2781	-5.8	0.0	2	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	952/1252,927/1227	100199272	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199272G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2781C>T	2.37:g.100199272G>A			Somatic				AFF3_ENST00000409579.1_Silent_p.G952G|AFF3_ENST00000409236.1_Silent_p.G927G|AFF3_ENST00000356421.2_Silent_p.G952G	p.G927G	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			16	3016	-			927					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2781C>T	CCDS42723.1																																																																																				0.488	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		11	158	0	0	0	0.411799	0	11	158				
ACAP1	9744	broad.mit.edu	37	17	7253450	7253450	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:7253450G>C	ENST00000158762.3	+	20	2172	c.1966G>C	c.(1966-1968)Gcc>Ccc	p.A656P	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	656	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTCCAGGCTCGCCTGCCTGTT	0.622																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1966-1968)Gcc>Ccc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							53.0	59.0	57.0					17																	7253450		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7253450G>C	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1966G>C	17.37:g.7253450G>C	ENSP00000158762:p.Ala656Pro		Somatic					p.A656P	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			20	2172	+			656			Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1966G>C	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151184	0.94645	.	.	ENSG00000072818	ENST00000158762	T	0.67865	-0.29	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	0.057397	0.64402	D	0.000002	T	0.79661	0.4484	M	0.88906	2.99	0.80722	D	1	P	0.47484	0.896	P	0.50896	0.653	D	0.83809	0.0240	10	0.72032	D	0.01	.	16.3819	0.83467	0.0:0.0:1.0:0.0	.	656	Q15027	ACAP1_HUMAN	P	656	ENSP00000158762:A656P	ENSP00000158762:A656P	A	+	1	0	ACAP1	7194174	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	8.802000	0.91910	2.733000	0.93635	0.442000	0.29010	GCC		0.622	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		10	122	0	0	0	0.608945	0	10	122				
RLIM	51132	broad.mit.edu	37	X	73812620	73812620	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:73812620T>G	ENST00000332687.6	-	4	748	c.530A>C	c.(529-531)gAa>gCa	p.E177A	RLIM_ENST00000349225.2_Missense_Mutation_p.E177A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	177					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGTGGGTTTTCCACTTGCCT	0.448																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(529-531)gAa>gCa		ring finger protein, LIM domain interacting							136.0	120.0	125.0					X																	73812620		2203	4297	6500	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812620T>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.530A>C	X.37:g.73812620T>G	ENSP00000328059:p.Glu177Ala		Somatic				RLIM_ENST00000349225.2_Missense_Mutation_p.E177A	p.E177A	NM_016120.3	NP_057204.2	WXS	Illumina GAIIx	Phase_I	Q9NVW2	RNF12_HUMAN			4	748	-			177					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.530A>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106171	0.56291	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09073	3.02;3.02	6.16	6.16	0.99307	.	0.365543	0.31404	N	0.007709	T	0.13970	0.0338	L	0.58810	1.83	0.53688	D	0.99997	D	0.53151	0.958	B	0.44224	0.444	T	0.00523	-1.1690	10	0.66056	D	0.02	-18.1388	15.6684	0.77252	0.0:0.0:0.0:1.0	.	177	Q9NVW2	RNF12_HUMAN	A	177	ENSP00000328059:E177A;ENSP00000253571:E177A	ENSP00000328059:E177A	E	-	2	0	RLIM	73729345	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	4.417000	0.59822	2.085000	0.62840	0.481000	0.45027	GAA		0.448	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		6	295	0	0	0	0.248553	0	6	295				
COL8A1	1295	broad.mit.edu	37	3	99514149	99514149	+	Silent	SNP	T	T	G	rs144636435		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:99514149T>G	ENST00000261037.3	+	5	1784	c.1404T>G	c.(1402-1404)ggT>ggG	p.G468G	COL8A1_ENST00000273342.4_Silent_p.G468G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	468	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCAAAAAGGTGTACCAGGAC	0.607																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1402-1404)ggT>ggG		collagen, type VIII, alpha 1							25.0	23.0	24.0					3																	99514149		2203	4298	6501	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514149T>G	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1404T>G	3.37:g.99514149T>G			Somatic				COL8A1_ENST00000273342.4_Silent_p.G468G	p.G468G	NM_001850.4	NP_001841.2	WXS	Illumina GAIIx	Phase_I	P27658	CO8A1_HUMAN			5	1784	+			468			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.1404T>G	CCDS2934.1																																																																																				0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		7	45	0	0	0	0.307466	0	7	45				
ETV6	2120	broad.mit.edu	37	12	12022525	12022525	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:12022525C>T	ENST00000396373.4	+	5	905	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	211					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CATGATCCGCCGCCTCTCCCC	0.622			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(631-633)Cgc>Tgc		ets variant 6							111.0	123.0	119.0					12																	12022525		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022525C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.631C>T	12.37:g.12022525C>T	ENSP00000379658:p.Arg211Cys		Somatic					p.R211C	NM_001987.4	NP_001978.1	WXS	Illumina GAIIx	Phase_I	P41212	ETV6_HUMAN			5	905	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	211					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.631C>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312889	0.81358	.	.	ENSG00000139083	ENST00000396373	T	0.04809	3.55	5.65	5.65	0.86999	.	0.049771	0.85682	D	0.000000	T	0.08358	0.0208	L	0.54323	1.7	0.54753	D	0.99998	B	0.20164	0.042	B	0.08055	0.003	T	0.14476	-1.0471	10	0.40728	T	0.16	.	19.3356	0.94316	0.0:1.0:0.0:0.0	.	211	P41212	ETV6_HUMAN	C	211	ENSP00000379658:R211C	ENSP00000379658:R211C	R	+	1	0	ETV6	11913792	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	2.655000	0.90218	0.655000	0.94253	CGC		0.622	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		6	252	0	0	0	0.361761	0	6	252				
SUV420H1	51111	broad.mit.edu	37	11	67925230	67925230	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:67925230T>C	ENST00000304363.4	-	11	2936	c.2583A>G	c.(2581-2583)atA>atG	p.I861M		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	861					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTTTCCAACTATTAACCTCA	0.413																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2581-2583)atA>atG		suppressor of variegation 4-20 homolog 1 (Drosophila)							56.0	57.0	57.0					11																	67925230		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925230T>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2583A>G	11.37:g.67925230T>C	ENSP00000305899:p.Ile861Met		Somatic					p.I861M	NM_017635.3	NP_060105.3	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			11	2936	-			861					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2583A>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206095	0.58234	.	.	ENSG00000110066	ENST00000304363	T	0.60548	0.18	5.71	-10.7	0.00240	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77560	-0.2542	10	0.87932	D	0	-24.77	12.9774	0.58544	0.2094:0.0:0.5852:0.2054	.	861	Q4FZB7	SV421_HUMAN	M	861	ENSP00000305899:I861M	ENSP00000305899:I861M	I	-	3	3	SUV420H1	67681806	0.377000	0.25106	0.033000	0.17914	0.986000	0.74619	-0.417000	0.07088	-1.411000	0.02032	0.402000	0.26972	ATA		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		5	136	0	0	0	0.217242	0	5	136				
ARHGAP25	9938	broad.mit.edu	37	2	69034497	69034497	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:69034497T>C	ENST00000295381.3	+	5	975	c.556T>C	c.(556-558)Ttc>Ctc	p.F186L	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.F179L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.F161L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.F147L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.F187L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	186	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGTGCAGAGTTCATCCTGGA	0.577																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(556-558)Ttc>Ctc		Rho GTPase activating protein 25							120.0	106.0	111.0					2																	69034497		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69034497T>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.556T>C	2.37:g.69034497T>C	ENSP00000295381:p.Phe186Leu		Somatic				ARHGAP25_ENST00000409030.3_Missense_Mutation_p.F179L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.F147L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.F161L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.F187L	p.F186L	NM_001007231.2	NP_001007232.2	WXS	Illumina GAIIx	Phase_I	P42331	RHG25_HUMAN			5	975	+			186			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.556T>C		.	.	.	.	.	.	.	.	.	.	T	22.9	4.353897	0.82243	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.42900	0.96;0.96;2.76;2.76;0.96;2.76;2.76	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098115	0.64402	D	0.000001	T	0.64864	0.2637	M	0.86651	2.83	0.80722	D	1	D;P;D;D;D;P;D	0.62365	0.977;0.606;0.971;0.971;0.971;0.952;0.991	P;P;P;P;P;B;D	0.65233	0.759;0.582;0.475;0.475;0.475;0.291;0.933	T	0.66575	-0.5889	10	0.25751	T	0.34	.	13.8255	0.63348	0.0:0.0:0.0:1.0	.	147;161;187;180;179;180;186	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	L	161;186;187;147;179;180;180;180;171	ENSP00000439917:F161L;ENSP00000295381:F186L;ENSP00000386911:F187L;ENSP00000420583:F147L;ENSP00000386863:F179L;ENSP00000386241:F180L;ENSP00000417139:F180L	ENSP00000295381:F186L	F	+	1	0	ARHGAP25	68888001	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.637000	0.83313	2.058000	0.61347	0.454000	0.30748	TTC		0.577	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		5	89	0	0	0	0.184627	0	5	89				
PAX3	5077	broad.mit.edu	37	2	223066658	223066658	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:223066658C>T	ENST00000350526.4	-	8	1561	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	475					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTCCAAGGCTTACTTTGTC	0.478			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1423-1425)aaG>aaA		paired box 3							87.0	84.0	85.0					2																	223066658		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066658C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1425G>A	2.37:g.223066658C>T			Somatic				PAX3_ENST00000409551.3_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron	p.K475K	NM_181457.3	NP_852122.1	WXS	Illumina GAIIx	Phase_I	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1561	-		Renal(207;0.0183)	475					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.1425G>A	CCDS42826.1																																																																																				0.478	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			15	69	0	0	0	0.500413	0	15	69				
OSBPL11	114885	broad.mit.edu	37	3	125271258	125271258	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:125271258C>A	ENST00000296220.5	-	9	1710	c.1421G>T	c.(1420-1422)aGc>aTc	p.S474I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	474					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GGAAGAACTGCTAAAAACACT	0.453																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1420-1422)aGc>aTc		oxysterol binding protein-like 11							99.0	90.0	93.0					3																	125271258		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271258C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1421G>T	3.37:g.125271258C>A	ENSP00000296220:p.Ser474Ile		Somatic					p.S474I	NM_022776.4	NP_073613.2	WXS	Illumina GAIIx	Phase_I	Q9BXB4	OSB11_HUMAN			9	1710	-			474					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1421G>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864415	0.32977	.	.	ENSG00000144909	ENST00000296220	T	0.20200	2.09	4.54	1.58	0.23477	.	0.722813	0.14298	N	0.328449	T	0.11324	0.0276	N	0.08118	0	0.24654	N	0.993506	B	0.24043	0.096	B	0.30029	0.11	T	0.29822	-0.9999	10	0.46703	T	0.11	-9.759	8.724	0.34458	0.0:0.6547:0.1992:0.1461	.	474	Q9BXB4	OSB11_HUMAN	I	474	ENSP00000296220:S474I	ENSP00000296220:S474I	S	-	2	0	OSBPL11	126753948	0.988000	0.35896	0.681000	0.30009	0.935000	0.57460	1.172000	0.31908	0.665000	0.31066	-0.216000	0.12614	AGC		0.453	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		10	138	1	0	1.58986e-06	0.361761	1.70343e-06	10	138				
CA13	377677	broad.mit.edu	37	8	86163153	86163153	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr8:86163153A>T	ENST00000321764.3	+	2	524	c.222A>T	c.(220-222)acA>acT	p.T74T	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	74					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TTGATGACACAGAGAACAAAT	0.383																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(220-222)acA>acT		carbonic anhydrase XIII							153.0	155.0	155.0					8																	86163153		2203	4299	6502	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163153A>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.222A>T	8.37:g.86163153A>T			Somatic				CA13_ENST00000517298.1_3'UTR	p.T74T	NM_198584.2	NP_940986.1	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			2	524	+			74						Silent	SNP	ENST00000321764.3	37	c.222A>T	CCDS6236.1																																																																																				0.383	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		110	199	0	0	0	0.870114	0	110	199				
MESDC2	23184	broad.mit.edu	37	15	81282120	81282120	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:81282120T>C	ENST00000261758.4	-	1	99	c.13A>G	c.(13-15)Agg>Ggg	p.R5G	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	5	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGCCCACCTGGAAGCCGCC	0.701																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(13-15)Agg>Ggg		mesoderm development candidate 2							12.0	11.0	11.0					15																	81282120		2182	4252	6434	SO:0001583	missense	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282120T>C	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.13A>G	15.37:g.81282120T>C	ENSP00000261758:p.Arg5Gly		Somatic					p.R5G	NM_015154.1	NP_055969.1	WXS	Illumina GAIIx	Phase_I	Q14696	MESD_HUMAN			1	99	-			5			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	c.13A>G	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	T	1.368	-0.586964	0.03827	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.13	1.83	0.25207	.	1.422520	0.04612	N	0.400480	T	0.20210	0.0486	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20605	-1.0270	9	0.14656	T	0.56	-27.4048	4.1055	0.10035	0.0:0.4102:0.2064:0.3834	.	5	Q14696	MESD_HUMAN	G	5	.	ENSP00000261758:R5G	R	-	1	2	MESDC2	79069175	0.284000	0.24287	0.355000	0.25773	0.007000	0.05969	0.493000	0.22451	0.283000	0.22279	0.383000	0.25322	AGG		0.701	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		5	6	0	0	0	0.248553	0	5	6				
ABCA9	10350	broad.mit.edu	37	17	67013849	67013849	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:67013849C>A	ENST00000340001.4	-	21	3060	c.2849G>T	c.(2848-2850)gGc>gTc	p.G950V	ABCA9_ENST00000453985.2_Missense_Mutation_p.G950V|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.G950V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	950					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCATCTGTGCCATTTCTAGT	0.428																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2848-2850)gGc>gTc		ATP-binding cassette, sub-family A (ABC1), member 9							306.0	280.0	289.0					17																	67013849		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67013849C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2849G>T	17.37:g.67013849C>A	ENSP00000342216:p.Gly950Val		Somatic				ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.G950V|ABCA9_ENST00000370732.2_Missense_Mutation_p.G950V	p.G950V	NM_080283.3	NP_525022.2	WXS	Illumina GAIIx	Phase_I	Q8IUA7	ABCA9_HUMAN			21	3060	-	Breast(10;1.47e-12)		950					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2849G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046902	0.55110	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86865	-2.07;-2.18	5.1	5.1	0.69264	.	0.000000	0.45867	D	0.000338	D	0.90755	0.7098	M	0.80332	2.49	0.50632	D	0.999884	D;P	0.54047	0.964;0.708	P;P	0.55303	0.773;0.728	D	0.90182	0.4243	10	0.40728	T	0.16	.	11.2116	0.48802	0.1831:0.8169:0.0:0.0	.	950;950	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	950;933;950;945	ENSP00000342216:G950V;ENSP00000359767:G950V	ENSP00000342216:G950V	G	-	2	0	ABCA9	64525444	0.862000	0.29867	0.913000	0.36048	0.764000	0.43329	2.870000	0.48451	2.372000	0.80975	0.591000	0.81541	GGC		0.428	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		8	740	1	0	1.06961e-07	0.278610	1.17397e-07	8	740				
SIGLEC16	400709	broad.mit.edu	37	19	50473431	50473431	+	RNA	SNP	T	T	G	rs67889261		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:50473431T>G	ENST00000602139.1	+	0	432							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CGTGAACAATTTGTTCTAAAA	0.547																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473431T>G	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473431T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	432	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	G	5.206	0.223454	0.09863	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	1.92	0.25849	.	6.233510	0.00166	N	0.000002	T	0.33933	0.0880	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29181	-1.0020	6	0.34782	T	0.22	.	5.8736	0.18816	0.0:0.0:0.0:1.0	.	.	.	.	V	147;135	.	ENSP00000396157:L147V	L	+	1	2	SIGLEC16	55165243	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.418000	0.34782	1.148000	0.42385	0.332000	0.21555	TTG		0.547	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		6	25	0	0	0	0.217242	0	6	25				
WDR26	80232	broad.mit.edu	37	1	224592221	224592221	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:224592221C>T	ENST00000414423.2	-	8	1403	c.1210G>A	c.(1210-1212)Gtt>Att	p.V404I	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.V257I	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	404						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATATAAGAAACGCCATAAGCA	0.413																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(1210-1212)Gtt>Att		WD repeat domain 26							126.0	116.0	119.0					1																	224592221		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224592221C>T	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1210G>A	1.37:g.224592221C>T	ENSP00000408108:p.Val404Ile		Somatic				WDR26_ENST00000295024.6_Missense_Mutation_p.V257I|WDR26_ENST00000366852.2_3'UTR	p.V404I	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	WXS	Illumina GAIIx	Phase_I	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	8	1403	-			404					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.1210G>A	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.114070|5.114070	0.94339|0.94339	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000480676|ENST00000414423;ENST00000295024	.|T;T	.|0.67171	.|-0.25;-0.25	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.059794	.|0.64402	.|D	.|0.000003	T|T	0.57725|0.57725	0.2073|0.2073	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|P	.|0.40083	.|0.702	.|B	.|0.28232	.|0.087	T|T	0.64253|0.64253	-0.6451|-0.6451	5|10	.|0.44086	.|T	.|0.13	.|.	17.7113|17.7113	0.88322|0.88322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|388	.|Q9H7D7-2	.|.	H|I	37|404;257	.|ENSP00000408108:V404I;ENSP00000295024:V257I	.|ENSP00000295024:V257I	R|V	-|-	2|1	0|0	WDR26|WDR26	222658844|222658844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.651000|7.651000	0.83577|0.83577	2.430000|2.430000	0.82344|0.82344	0.484000|0.484000	0.47621|0.47621	CGT|GTT		0.413	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		5	128	0	0	0	0.184627	0	5	128				
MMP3	4314	broad.mit.edu	37	11	102713276	102713276	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:102713276C>T	ENST00000299855.5	-	3	641	c.385G>A	c.(385-387)Gct>Act	p.A129T		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	129					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GAATCAACAGCATCTTTTGGC	0.383																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(385-387)Gct>Act		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						110.0	111.0	111.0					11																	102713276		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713276C>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.385G>A	11.37:g.102713276C>T	ENSP00000299855:p.Ala129Thr		Somatic					p.A129T	NM_002422.3	NP_002413.1	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	3	641	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	129					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.385G>A	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660226	0.88154	.	.	ENSG00000149968	ENST00000299855	T	0.20881	2.04	6.16	4.28	0.50868	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.218004	0.23107	N	0.051860	T	0.21962	0.0529	L	0.27975	0.815	0.28310	N	0.922716	B	0.25390	0.125	B	0.39935	0.314	T	0.28138	-1.0053	10	0.72032	D	0.01	.	11.7767	0.51989	0.0:0.8585:0.0:0.1415	.	129	P08254	MMP3_HUMAN	T	129	ENSP00000299855:A129T	ENSP00000299855:A129T	A	-	1	0	MMP3	102218486	0.970000	0.33590	0.429000	0.26710	0.848000	0.48234	4.936000	0.63506	1.594000	0.50039	0.650000	0.86243	GCT		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		58	189	0	0	0	0.870114	0	58	189				
RXRB	6257	broad.mit.edu	37	6	33166123	33166123	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:33166123C>T	ENST00000374680.3	-	3	813	c.602G>A	c.(601-603)gGc>gAc	p.G201D	RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|SLC39A7_ENST00000374675.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D|SLC39A7_ENST00000374677.3_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	201	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGCCGTTTGCCAGCCCCAGG	0.622																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(601-603)gGc>gAc		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						123.0	144.0	136.0					6																	33166123		1508	2707	4215	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33166123C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.602G>A	6.37:g.33166123C>T	ENSP00000363812:p.Gly201Asp		Somatic				RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D	p.G201D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	WXS	Illumina GAIIx	Phase_I	P28702	RXRB_HUMAN			3	813	-			201			Modulating (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.602G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864280	0.51482	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.93189	-3.16;-3.16;-3.18;-3.0	5.11	5.11	0.69529	.	0.376195	0.30649	N	0.009176	D	0.91553	0.7332	N	0.19112	0.55	0.43187	D	0.995017	D;D;D;B;B;P;P;P	0.69078	0.997;0.988;0.995;0.04;0.305;0.737;0.92;0.737	D;P;P;B;B;B;B;B	0.63597	0.916;0.837;0.72;0.045;0.109;0.22;0.345;0.22	D	0.92106	0.5692	10	0.45353	T	0.12	.	16.0896	0.81084	0.0:1.0:0.0:0.0	.	105;201;84;11;201;201;241;201	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	D	201;201;11;105	ENSP00000363817:G201D;ENSP00000363812:G201D;ENSP00000439222:G11D;ENSP00000415561:G105D	ENSP00000363812:G201D	G	-	2	0	RXRB	33274101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.205000	0.42770	2.644000	0.89710	0.549000	0.68633	GGC		0.622	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		5	242	0	0	0	0.217242	0	5	242				
ECSIT	51295	broad.mit.edu	37	19	11617057	11617057	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:11617057G>A	ENST00000270517.7	-	8	1373	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.P199L|ECSIT_ENST00000252440.7_3'UTR|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000591352.1_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000593191.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	413					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTGGTCCTCGGGCAGGGGCGG	0.701																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(1237-1239)cCc>cTc		ECSIT signalling integrator							34.0	35.0	34.0					19																	11617057		2176	4265	6441	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11617057G>A	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1238C>T	19.37:g.11617057G>A	ENSP00000270517:p.Pro413Leu		Somatic				ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.P199L	p.P413L	NM_016581.4	NP_057665.2	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			8	1373	-			413					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.1238C>T	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609658	0.28623	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.29397	1.57;1.57	4.37	-2.32	0.06745	.	2.778290	0.01093	N	0.005226	T	0.24198	0.0586	L	0.51422	1.61	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.09640	-1.0665	10	0.27082	T	0.32	-1.6588	1.3375	0.02148	0.1975:0.3158:0.3238:0.163	.	199;413	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	L	413;199	ENSP00000270517:P413L;ENSP00000412712:P199L	ENSP00000270517:P413L	P	-	2	0	ECSIT	11478057	0.083000	0.21467	0.000000	0.03702	0.016000	0.09150	1.751000	0.38339	-0.041000	0.13558	0.585000	0.79938	CCC		0.701	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		51	104	0	0	0	0.870114	0	51	104				
MKL2	57496	broad.mit.edu	37	16	14345845	14345845	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:14345845C>T	ENST00000341243.5	+	12	2497	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S	MKL2_ENST00000571589.1_Missense_Mutation_p.P844S|MKL2_ENST00000574045.1_Missense_Mutation_p.P794S|MKL2_ENST00000318282.5_Missense_Mutation_p.P794S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	833					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTCCGCTTCCATCCCTGCA	0.498																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2530-2532)Cca>Tca		MKL/myocardin-like 2							98.0	89.0	92.0					16																	14345845		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14345845C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2497C>T	16.37:g.14345845C>T	ENSP00000345841:p.Pro833Ser		Somatic				MKL2_ENST00000574045.1_Missense_Mutation_p.P794S|MKL2_ENST00000318282.5_Missense_Mutation_p.P794S|MKL2_ENST00000341243.5_Missense_Mutation_p.P833S	p.P844S	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			14	2702	+			833					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2530C>T		.	.	.	.	.	.	.	.	.	.	C	10.19	1.281422	0.23392	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.63	-1.93	0.07594	.	0.404445	0.29624	N	0.011633	T	0.22244	0.0536	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.18310	0.001;0.027	B;B	0.16289	0.003;0.015	T	0.11372	-1.0590	9	0.49607	T	0.09	-3.2994	7.3367	0.26613	0.0:0.3786:0.4167:0.2047	.	844;794	B4DGT8;Q9ULH7-4	.;.	S	794;833	.	ENSP00000339086:P794S	P	+	1	0	MKL2	14253346	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	0.382000	0.20635	-0.266000	0.09339	-0.744000	0.03518	CCA		0.498	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		62	232	0	0	0	0.870114	0	62	232				
ZCCHC17	51538	broad.mit.edu	37	1	31836952	31836952	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:31836952G>A	ENST00000373714.1	+	8	899	c.638G>A	c.(637-639)gGc>gAc	p.G213D	ZCCHC17_ENST00000422613.2_Missense_Mutation_p.G215D|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.G205D|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.G213D	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	213	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AGTGATACAGGCAAGAGGGCA	0.393																																						ENST00000373714.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.(637-639)gGc>gAc		zinc finger, CCHC domain containing 17							89.0	92.0	91.0					1																	31836952		2203	4300	6503	SO:0001583	missense	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31836952G>A	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.638G>A	1.37:g.31836952G>A	ENSP00000362819:p.Gly213Asp		Somatic				ZCCHC17_ENST00000546109.1_Missense_Mutation_p.G205D|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.G215D|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.G213D	p.G213D			WXS	Illumina GAIIx	Phase_I	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	8	899	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	213			Lys-rich.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	c.638G>A	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636268	0.47049	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.52	5.52	0.82312	.	0.094381	0.46758	D	0.000277	T	0.64560	0.2609	L	0.36672	1.1	0.33264	D	0.560141	P;D;D	0.89917	0.933;1.0;0.999	B;D;D	0.87578	0.323;0.998;0.959	T	0.72020	-0.4416	9	0.87932	D	0	.	16.2868	0.82725	0.0:0.0:1.0:0.0	.	215;205;213	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	D	213;213;205;215	.	ENSP00000343557:G213D	G	+	2	0	ZCCHC17	31609539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.224000	0.58593	2.872000	0.98467	0.650000	0.86243	GGC		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		5	90	0	0	0	0.184627	0	5	90				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														1564							g.chr22:42538870A>C																													22.37:g.42538870A>C			Somatic				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA				WXS	Illumina GAIIx	Phase_I					0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	16	0	0	0	0.217242	0	3	16				
CATSPERG	57828	broad.mit.edu	37	19	38853184	38853184	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:38853184G>C	ENST00000409235.3	+	19	2441	c.2326G>C	c.(2326-2328)Ggc>Cgc	p.G776R	CATSPERG_ENST00000410018.1_Missense_Mutation_p.G736R|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	776					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTCGGCGCAGGGCCACTCGTT	0.642																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2326-2328)Ggc>Cgc		catsper channel auxiliary subunit gamma							46.0	43.0	44.0					19																	38853184		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853184G>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2326G>C	19.37:g.38853184G>C	ENSP00000386962:p.Gly776Arg		Somatic				CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.G736R	p.G776R	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	Q6ZRH7	CTSRG_HUMAN			19	2441	+			776					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2326G>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	6.703	0.498278	0.12762	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.30714	1.52;1.52	3.73	-2.06	0.07298	.	3.563450	0.01550	N	0.019624	T	0.26448	0.0646	L	0.51422	1.61	0.09310	N	0.999996	B;B	0.29162	0.235;0.023	B;B	0.31016	0.123;0.067	T	0.08289	-1.0729	10	0.17832	T	0.49	-4.3188	4.8926	0.13735	0.3944:0.1661:0.4396:0.0	.	776;736	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	R	736;776;776	ENSP00000387057:G736R;ENSP00000386962:G776R	ENSP00000386962:G776R	G	+	1	0	CATSPERG	43545024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.144000	0.16135	-0.397000	0.07691	-1.598000	0.00824	GGC		0.642	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		6	108	0	0	0	0.217242	0	6	108				
CPXM1	56265	broad.mit.edu	37	20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T	rs372944936		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:2775056C>T	ENST00000380605.2	-	14	2049	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	662					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1984-1986)cGt>cAt		carboxypeptidase X (M14 family), member 1			HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	55.0	55.0		1763,1985	5.1	1.0	20		55	0,8600		0,0,4300	no	missense,missense	CPXM1	NM_001184699.1,NM_019609.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	588/661,662/735	2775056	1,13005	2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775056C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1985G>A	20.37:g.2775056C>T	ENSP00000369979:p.Arg662His		Somatic					p.R662H	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	WXS	Illumina GAIIx	Phase_I	Q96SM3	CPXM1_HUMAN			14	2049	-			662					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1985G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156125	0.94686	2.27E-4	0.0	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.42513	0.97	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	H	0.96489	3.83	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	T	0.83349	-0.0004	10	0.87932	D	0	-24.3659	16.4323	0.83853	0.0:1.0:0.0:0.0	.	662	Q96SM3	CPXM1_HUMAN	H	662;358	ENSP00000369979:R662H	ENSP00000369979:R662H	R	-	2	0	CPXM1	2723056	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.560000	0.82277	2.821000	0.97095	0.651000	0.88453	CGT		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		4	111	0	0	0	0.150653	0	4	111				
TNFSF9	8744	broad.mit.edu	37	19	6534882	6534882	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:6534882C>T	ENST00000245817.3	+	3	608	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	190					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CCGCCTCCTCCGAGGCTCGGA	0.697																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(568-570)tcC>tcT		tumor necrosis factor (ligand) superfamily, member 9							14.0	17.0	16.0					19																	6534882		2195	4285	6480	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6534882C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.570C>T	19.37:g.6534882C>T			Somatic					p.S190S	NM_003811.3	NP_003802.1	WXS	Illumina GAIIx	Phase_I	P41273	TNFL9_HUMAN			3	608	+			190					Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.570C>T	CCDS12169.1																																																																																				0.697	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		6	27	0	0	0	0.248553	0	6	27				
DRD5	1816	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCAGCGTGGACCGCTACTGG	0.612																																						ENST00000304374.2																			1	Substitution - Missense(1)	p.D137G(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(409-411)gAc>gGc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						42.0	40.0	41.0					4																	9784063		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784063A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.410A>G	4.37:g.9784063A>G	ENSP00000306129:p.Asp137Gly		Somatic					p.D137G	NM_000798.4	NP_000789.1	WXS	Illumina GAIIx	Phase_I	P21918	DRD5_HUMAN			1	806	+			137					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.410A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.025892	0.75390	.	.	ENSG00000169676	ENST00000304374	D	0.85702	-2.02	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	H	0.98111	4.15	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96259	0.9189	10	0.87932	D	0	.	12.8864	0.58047	1.0:0.0:0.0:0.0	.	137	P21918	DRD5_HUMAN	G	137	ENSP00000306129:D137G	ENSP00000306129:D137G	D	+	2	0	DRD5	9393161	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.708000	0.91372	1.824000	0.53156	0.254000	0.18369	GAC		0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	56	0	0	0	0.115264	0	3	56				
PGLYRP2	114770	broad.mit.edu	37	19	15586419	15586419	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:15586419C>T	ENST00000340880.4	-	2	1542	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	PGLYRP2_ENST00000292609.4_Silent_p.Q354Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	354					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCTCATGCACTGAAGCTGGA	0.582																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1060-1062)caG>caA		peptidoglycan recognition protein 2							92.0	90.0	91.0					19																	15586419		2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586419C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1062G>A	19.37:g.15586419C>T			Somatic				PGLYRP2_ENST00000340880.4_Silent_p.Q354Q	p.Q354Q			WXS	Illumina GAIIx	Phase_I	Q96PD5	PGRP2_HUMAN			2	1191	-			354					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.1062G>A	CCDS12330.2																																																																																				0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		25	143	0	0	0	0.667858	0	25	143				
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G	rs587768266		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)cggfs	p.R417fs	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.R417fs	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.52																																						ENST00000376182.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(1249-1251)ggafs		PRAME family member 6																																				SO:0001589	frameshift_variant	440561							g.chr1:13109019_13109020insG		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376182.1:c.1250dupC	1.37:g.13109025_13109025dupG	ENSP00000365353:p.Arg417fs		Somatic				PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron	p.G417fs			WXS	Illumina GAIIx	Phase_I	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1348_1349	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	417					A0AUJ9	Frame_Shift_Ins	INS	ENST00000376182.1	37	c.1249_1250insC																																																																																					0.520	PRAMEF6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001010889		11	371						11	371	---	---	---	---
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)accfs	p.T38fs				H0Y7S4	PRA26_HUMAN	PRAME family member 26	0																	TCCTGCACTGGTTTTTTGTTCC	0.505																																						ENST00000423177.1																			0				breast(1)|lung(1)	2						c.(112-114)cagfs																																						SO:0001589	frameshift_variant	645359							g.chr1:13219469_13219470insT			1p36.21	2014-02-12	2013-09-24		ENSG00000229571	ENSG00000229571			49178	protein-coding gene	gene with protein product							Standard	XM_005276124		Approved			H0Y7S4	OTTHUMG00000074741	ENST00000423177.1:c.113dupA	1.37:g.13219475_13219475dupT	ENSP00000414869:p.Thr38fs		Somatic					p.Q38fs			WXS	Illumina GAIIx	Phase_I					1	111_112	-									Frame_Shift_Ins	INS	ENST00000423177.1	37	c.112_113insA																																																																																					0.505	PRAMEF26-001	PUTATIVE	not_best_in_genome_evidence|mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000158526.1			7	705						7	705	---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:21936093_21936094insG	ENST00000374765.4	-	15	1245_1246	c.1045_1046insC	c.(1045-1047)ctcfs	p.L349fs	RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.L413fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.L349fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.L380fs|RAP1GAP_ENST00000542643.2_Frame_Shift_Ins_p.L349fs	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	349	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1045-1047)cccfs		RAP1 GTPase activating protein																																				SO:0001589	frameshift_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936093_21936094insG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1046dupC	1.37:g.21936100_21936100dupG	ENSP00000363897:p.Leu349fs		Somatic				RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs|RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs	p.P349fs	NM_001145657.1	NP_001139129.1	WXS	Illumina GAIIx	Phase_I	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	16	1347_1348	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	349			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Frame_Shift_Ins	INS	ENST00000374765.4	37	c.1045_1046insC	CCDS218.1																																																																																				0.634	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		7	149						7	149	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs		Somatic				ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	303						10	303	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			11	147						11	147	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs		Somatic				CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs	p.R469fs	NM_156039.3	NP_724781.1	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		10	240						10	240	---	---	---	---
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)gccfs	p.A321fs	RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644																																						ENST00000331593.5																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(961-963)cccfs		bone morphogenetic protein 8a																																				SO:0001589	frameshift_variant	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39988691_39988692insC	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.967dupC	1.37:g.39988697_39988697dupC	ENSP00000327440:p.Ala321fs		Somatic				RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA	p.P321fs	NM_181809.3	NP_861525.2	WXS	Illumina GAIIx	Phase_I	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		6	1307_1308	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	321					Q5T3A5	Frame_Shift_Ins	INS	ENST00000331593.5	37	c.961_962insC	CCDS437.1																																																																																				0.644	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		10	223						10	223	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		7	958						7	958	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		16	254						16	254	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)accfs	p.T1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.T1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554																																						ENST00000371073.2																			1	Insertion - Frameshift(1)	p.Q1185fs*23(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3697-3699)cccfs		cache domain containing 1																																				SO:0001589	frameshift_variant	57685				calcium ion transport	integral to membrane		g.chr1:65157116_65157117insC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3704dupC	1.37:g.65157123_65157123dupC	ENSP00000360113:p.Thr1233fs		Somatic				CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs	p.P1233fs			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			27	3697_3698	+			1233					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	ENST00000371073.2	37	c.3697_3698insC																																																																																					0.554	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		7	179						7	179	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs		Somatic					p.Q432fs	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		14	172						14	172	---	---	---	---
DENND2D	79961	broad.mit.edu	37	1	111742337	111742338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:111742337_111742338insC	ENST00000357640.4	-	2	379_380	c.150_151insG	c.(148-153)gggcagfs	p.Q51fs	DENND2D_ENST00000473682.1_5'UTR|CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.Q48fs	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	51					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AAGAAGTGCTGCCCCCCAGCAA	0.485																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(148-153)ggagcafs		DENN/MADD domain containing 2D																																				SO:0001589	frameshift_variant	79961							g.chr1:111742337_111742338insC		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.151dupG	1.37:g.111742343_111742343dupC	ENSP00000350266:p.Gln51fs		Somatic				DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.A48fs|DENND2D_ENST00000473682.1_5'UTR	p.A51fs	NM_024901.3	NP_079177.2	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	2	379_380	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	51					Q5T5V6|Q9BSU0	Frame_Shift_Ins	INS	ENST00000357640.4	37	c.150_151insG	CCDS831.1																																																																																				0.485	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		8	211						8	211	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		27	419						27	419	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs		Somatic				OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs	p.T243fs			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		9	174						9	174	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117561126	117561127	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:117561126_117561127insC	ENST00000256652.4	+	6	2019_2020	c.1961_1962insC	c.(1960-1965)cgccccfs	p.RP654fs	CD101_ENST00000369470.1_Frame_Shift_Ins_p.RP654fs	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	654					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TACAACAACCGCCCCCCGAGGG	0.441																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1960-1962)cccfs		CD101 molecule																																				SO:0001589	frameshift_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117561126_117561127insC	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1967dupC	1.37:g.117561132_117561132dupC	ENSP00000256652:p.Arg654fs		Somatic				CD101_ENST00000369470.1_Frame_Shift_Ins_p.P654fs	p.P654fs	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	WXS	Illumina GAIIx	Phase_I	Q93033	IGSF2_HUMAN			6	2019_2020	+			654					Q15856	Frame_Shift_Ins	INS	ENST00000256652.4	37	c.1961_1962insC	CCDS891.1																																																																																				0.441	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		7	145						7	145	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		14	337						14	337	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		10	567						10	567	---	---	---	---
ARNT	405	broad.mit.edu	37	1	150784508	150784509	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:150784508_150784509insG	ENST00000358595.5	-	22	2558_2559	c.2358_2359insC	c.(2356-2361)ccctttfs	p.F787fs	ARNT_ENST00000515192.1_Frame_Shift_Ins_p.F773fs|ARNT_ENST00000354396.2_Frame_Shift_Ins_p.F785fs|RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000505755.1_Frame_Shift_Ins_p.F772fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	787					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATTCTGAAAAGGGGGGAAACA	0.376			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(2356-2361)cctttcfs		aryl hydrocarbon receptor nuclear translocator																																				SO:0001589	frameshift_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150784508_150784509insG	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2359dupC	1.37:g.150784514_150784514dupG	ENSP00000351407:p.Phe787fs		Somatic				ARNT_ENST00000515192.1_Frame_Shift_Ins_p.PF772fs|ARNT_ENST00000354396.2_Frame_Shift_Ins_p.PF784fs|ARNT_ENST00000505755.1_Frame_Shift_Ins_p.PF771fs	p.PF786fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	WXS	Illumina GAIIx	Phase_I	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	2558_2559	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		786					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Frame_Shift_Ins	INS	ENST00000358595.5	37	c.2358_2359insC	CCDS970.1																																																																																				0.376	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			8	196						8	196	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		10	326						10	326	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs		Somatic					p.TP994fs	NM_022093.1	NP_071376.1	WXS	Illumina GAIIx	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	416						8	416	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs		Somatic					p.T1683fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	448						23	448	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		9	375						9	375	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		7	503						7	503	---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20840863	20840864	+	Frame_Shift_Ins	INS	-	-	G	rs77941615	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:20840863_20840864insG	ENST00000304031.3	-	3	300_301	c.275_276insC	c.(274-276)ccafs	p.P92fs	HS1BP3_ENST00000402541.1_Frame_Shift_Ins_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Ins_p.P92fs	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGGTAGTGGGGGGAGGCT	0.54																																						ENST00000402541.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(274-276)cctfs		HCLS1 binding protein 3																																				SO:0001589	frameshift_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840863_20840864insG		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.276dupC	2.37:g.20840869_20840869dupG	ENSP00000305193:p.Pro92fs		Somatic				HS1BP3_ENST00000406618.3_Frame_Shift_Ins_p.P92fs|HS1BP3_ENST00000304031.3_Frame_Shift_Ins_p.P92fs	p.P92fs			WXS	Illumina GAIIx	Phase_I	Q53T59	H1BP3_HUMAN			3	289_290	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		92			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Frame_Shift_Ins	INS	ENST00000304031.3	37	c.275_276insC	CCDS1700.1																																																																																				0.540	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		8	415						8	415	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs		Somatic				DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs	p.Q919fs	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		8	573						8	573	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)accfs	p.T608fs	SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.T453fs|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1822-1824)cccfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F																																				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906845_74906846insC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1828dupC	2.37:g.74906851_74906851dupC	ENSP00000350547:p.Thr608fs		Somatic				SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs|SEMA4F_ENST00000473350.1_3'UTR	p.P608fs	NM_004263.3	NP_004254.2	WXS	Illumina GAIIx	Phase_I	O95754	SEM4F_HUMAN			14	1971_1972	+			608			Ig-like C2-type.		Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1822_1823insC	CCDS1955.1																																																																																				0.629	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		8	209						8	209	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs		Somatic				EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs	p.H144fs			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			7	264						7	264	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136622724	136622725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:136622724_136622725insC	ENST00000264156.2	-	7	996_997	c.936_937insG	c.(934-939)gggaaafs	p.K313fs	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	313					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTGAGCTCTTTCCCCCCAAACT	0.376																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(934-939)ggaagafs		minichromosome maintenance complex component 6	Atorvastatin(DB01076)																																			SO:0001589	frameshift_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136622724_136622725insC		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.937dupG	2.37:g.136622730_136622730dupC	ENSP00000264156:p.Lys313fs		Somatic					p.R313fs	NM_005915.5	NP_005906.2	WXS	Illumina GAIIx	Phase_I	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	7	996_997	-			313					B2R6H2|Q13504|Q99859	Frame_Shift_Ins	INS	ENST00000264156.2	37	c.936_937insG	CCDS2179.1																																																																																				0.376	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		7	320						7	320	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Insertion - Frameshift(1)	p.A749fs*3(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2245-2247)aagfs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256860_163256861insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs		Somatic					p.K749fs	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			10	2344_2345	-			749					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.2245_2246insG	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		7	346						7	346	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	226						12	226	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			7	232						7	232	---	---	---	---
RQCD1	9125	broad.mit.edu	37	2	219449363	219449364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:219449363_219449364insT	ENST00000273064.6	+	4	724_725	c.349_350insT	c.(349-351)cttfs	p.L117fs	RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.L117fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	117					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCCCACTTTTTTTGTAC	0.416																																						ENST00000273064.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(349-351)tttfs		RCD1 required for cell differentiation1 homolog (S. pombe)																																				SO:0001589	frameshift_variant	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219449363_219449364insT	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.356dupT	2.37:g.219449370_219449370dupT	ENSP00000273064:p.Leu117fs		Somatic				RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F117fs	p.F117fs	NM_005444.2	NP_005435.1	WXS	Illumina GAIIx	Phase_I	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	724_725	+		Renal(207;0.0915)	117					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Frame_Shift_Ins	INS	ENST00000273064.6	37	c.349_350insT	CCDS33379.1																																																																																				0.416	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		7	587						7	587	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		7	304						7	304	---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9413160	9413161	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:9413160_9413161insG	ENST00000345094.3	+	4	1081_1082	c.747_748insG	c.(748-750)gggfs	p.G250fs	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Frame_Shift_Ins_p.G250fs|THUMPD3_ENST00000452837.2_Frame_Shift_Ins_p.G250fs	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	250	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CAAGAGATTTTGGGGGTGCTGT	0.446																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(745-750)ttggggfs		THUMP domain containing 3																																				SO:0001589	frameshift_variant	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9413160_9413161insG	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.752dupG	3.37:g.9413165_9413165dupG	ENSP00000339532:p.Gly250fs		Somatic				THUMPD3_ENST00000515662.2_Frame_Shift_Ins_p.LG249fs|THUMPD3_ENST00000452837.2_Frame_Shift_Ins_p.LG249fs|SETD5-AS1_ENST00000468186.1_RNA	p.LG249fs	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	WXS	Illumina GAIIx	Phase_I	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	1081_1082	+	Medulloblastoma(99;0.227)		249			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Frame_Shift_Ins	INS	ENST00000345094.3	37	c.747_748insG	CCDS2573.1																																																																																				0.446	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		7	505						7	505	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:9517294_9517295insC	ENST00000406341.1	+	22	4038_4039	c.3848_3849insC	c.(3847-3852)aaccccfs	p.NP1283fs	SETD5_ENST00000407969.1_Frame_Shift_Ins_p.NP1302fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.NP1185fs|SETD5_ENST00000402466.1_Frame_Shift_Ins_p.NP1185fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.NP1283fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.55																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3553-3555)accfs		SET domain containing 5																																				SO:0001589	frameshift_variant	55209							g.chr3:9517294_9517295insC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3855dupC	3.37:g.9517301_9517301dupC	ENSP00000383939:p.Asn1283fs		Somatic				SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs	p.T1185fs			WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4322_4323	+	Medulloblastoma(99;0.227)		1283			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Frame_Shift_Ins	INS	ENST00000406341.1	37	c.3554_3555insC	CCDS46741.1																																																																																				0.550	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		9	310						9	310	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1483-1485)cccfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs		Somatic				MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs	p.P495fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	WXS	Illumina GAIIx	Phase_I	P40692	MLH1_HUMAN			13	1699_1700	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		12	857						12	857	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48508191	48508192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:48508191_48508192insC	ENST00000422277.2	+	1	963_964	c.302_303insC	c.(301-306)agccccfs	p.SP101fs	TREX1_ENST00000456089.1_Intron|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Frame_Shift_Ins_p.SP46fs|TREX1_ENST00000444177.1_Frame_Shift_Ins_p.SP36fs|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000296443.9_Frame_Shift_Ins_p.SP46fs|TREX1_ENST00000433541.1_5'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	101					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCTGGAGAGCCCCCCCACCT	0.644																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(136-138)accfs		three prime repair exonuclease 1																																				SO:0001589	frameshift_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508191_48508192insC	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.309dupC	3.37:g.48508198_48508198dupC	ENSP00000390478:p.Ser101fs		Somatic				TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Frame_Shift_Ins_p.T46fs|TREX1_ENST00000444177.1_Frame_Shift_Ins_p.T36fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000422277.2_Frame_Shift_Ins_p.T101fs	p.T46fs			WXS	Illumina GAIIx	Phase_I	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1024_1025	+			101					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Ins	INS	ENST00000422277.2	37	c.137_138insC	CCDS43086.1																																																																																				0.644	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		7	209						7	209	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(988-990)cccfs	p.P330fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	330					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(985-990)ctccccfs		interleukin 17 receptor B																																				SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898813_53898814insC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.993dupC	3.37:g.53898819_53898819dupC	ENSP00000288167:p.Pro330fs		Somatic					p.LP329fs	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	996_997	+			329					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Ins	INS	ENST00000288167.3	37	c.987_988insC	CCDS2874.1																																																																																				0.406	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		7	743						7	743	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2332-2334)gccfs		ataxin 7																																				SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981831_63981832insC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2340dupC	3.37:g.63981838_63981838dupC	ENSP00000295900:p.Gly778fs		Somatic				ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs	p.A778fs	NM_001177387.1	NP_001170858.1	WXS	Illumina GAIIx	Phase_I	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2886_2887	+		Prostate(884;0.0181)	778			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Ins	INS	ENST00000295900.6	37	c.2333_2334insC	CCDS43102.1																																																																																				0.545	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		14	202						14	202	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:108819313_108819314insT	ENST00000483760.1	-	5	307_308	c.264_265insA	c.(262-267)aaacggfs	p.R89fs	MORC1_ENST00000232603.5_Frame_Shift_Ins_p.R89fs|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1									p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406																																						ENST00000232603.5																			1	Substitution - Missense(1)	p.R89W(1)	prostate(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(262-267)aaggctfs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819313_108819314insT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.265dupA	3.37:g.108819319_108819319dupT	ENSP00000417282:p.Arg89fs		Somatic				MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	p.A89fs	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	Q86VD1	MORC1_HUMAN			5	346_347	-			89						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.264_265insA																																																																																					0.406	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			14	1228						14	1228	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cccatafs	p.I88fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	89	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(259-264)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646628_124646629insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.262dupC	3.37:g.124646634_124646634dupG	ENSP00000312235:p.Ile88fs		Somatic					p.N88fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	299_300	-			88			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.261_262insC																																																																																					0.441	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		8	1461						8	1461	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs		Somatic				TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	WXS	Illumina GAIIx	Phase_I	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		10	263						10	263	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G	rs199713806		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)cggfs	p.R604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.R50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.R604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAGGGCCTCCCGGGGGGGCAGT	0.465																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1810-1812)ggafs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta																																				SO:0001589	frameshift_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138413709_138413710insG		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1811dupC	3.37:g.138413716_138413716dupG	ENSP00000418143:p.Arg604fs		Somatic				PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs	p.G604fs			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			13	1883_1884	-			604			PI3K helical.		D3DNF0|Q24JU2	Frame_Shift_Ins	INS	ENST00000477593.1	37	c.1810_1811insC	CCDS3104.1																																																																																				0.465	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			10	181						10	181	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs		Somatic					p.G493fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		10	1216						10	1216	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs		Somatic				SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		9	607						9	607	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3162)gtccccfs	p.VP1053fs	FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.VP1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.VP1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.47																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3157-3159)gccfs		fibronectin type III domain containing 3B																																				SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096209_172096210insC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3165dupC	3.37:g.172096216_172096216dupC	ENSP00000338523:p.Val1053fs		Somatic				FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs	p.A1053fs	NM_001135095.1	NP_001128567.1	WXS	Illumina GAIIx	Phase_I	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3257_3258	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1053					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	ENST00000336824.4	37	c.3158_3159insC	CCDS3217.1																																																																																				0.470	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		8	201						8	201	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192053255	192053256	+	Splice_Site	INS	-	-	G	rs371917110		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:192053255_192053256insG	ENST00000454309.2	-	3	1136		c.e3-2		FGF12_ENST00000445105.2_Splice_Site|FGF12_ENST00000264730.3_Splice_Site|FGF12_ENST00000430714.1_Splice_Site|FGF12_ENST00000450716.1_Splice_Site	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12						adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAAGAGAGCTGGGGGGAGAAA	0.426																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.e3-2		fibroblast growth factor 12																																				SO:0001630	splice_region_variant	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192053255_192053256insG	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.311-2->C	3.37:g.192053261_192053261dupG			Somatic				FGF12_ENST00000430714.1_Splice_Site|FGF12_ENST00000445105.1_Splice_Site|FGF12_ENST00000450716.1_Splice_Site|FGF12_ENST00000264730.3_Splice_Site		NM_021032.4	NP_066360.1	WXS	Illumina GAIIx	Phase_I	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	3	1136	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)						B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Splice_Site	INS	ENST00000454309.2	37		CCDS3301.1																																																																																				0.426	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032	Intron	8	372						8	372	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:197427914_197427915insG	ENST00000296343.5	-	7	829_830	c.830_831insC	c.(829-831)ccafs	p.P277fs	KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000273582.5_Frame_Shift_Ins_p.P217fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(649-651)cgtfs		KIAA0226																																				SO:0001589	frameshift_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427914_197427915insG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.831dupC	3.37:g.197427921_197427921dupG	ENSP00000296343:p.Pro277fs		Somatic				KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs	p.R217fs	NM_001145642.2	NP_001139114.1	WXS	Illumina GAIIx	Phase_I	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1195_1196	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		277			Ser-rich.		Q96CK5	Frame_Shift_Ins	INS	ENST00000296343.5	37	c.650_651insC	CCDS43195.1																																																																																				0.554	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		8	192						8	192	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	619787	619788	+	Frame_Shift_Ins	INS	-	-	C	rs28414606	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:619787_619788insC	ENST00000496514.1	+	1	393_394	c.372_373insC	c.(373-375)cccfs	p.P125fs	PDE6B_ENST00000255622.6_Frame_Shift_Ins_p.P125fs			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	125	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACTGCCTGGTGCCCCCCGACTC	0.658																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(370-375)gtccccfs		phosphodiesterase 6B, cGMP-specific, rod, beta																																				SO:0001589	frameshift_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619787_619788insC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.378dupC	4.37:g.619793_619793dupC	ENSP00000420295:p.Pro125fs		Somatic				PDE6B_ENST00000496514.1_Frame_Shift_Ins_p.VP124fs	p.VP124fs	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	WXS	Illumina GAIIx	Phase_I	P35913	PDE6B_HUMAN			1	415_416	+			124			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Frame_Shift_Ins	INS	ENST00000496514.1	37	c.372_373insC	CCDS33932.1																																																																																				0.658	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		2	4						2	4	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs		Somatic				FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		10	432						10	432	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs		Somatic					p.R138fs	NM_014485.2	NP_055300.1	WXS	Illumina GAIIx	Phase_I	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		8	682						8	682	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Somatic				UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		12	458						12	458	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:144381536_144381537insC	ENST00000262994.4	+	8	2001_2002	c.1699_1700insC	c.(1699-1701)tccfs	p.S567fs	GAB1_ENST00000262995.4_Frame_Shift_Ins_p.S597fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.S464fs	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1789-1791)cccfs		GRB2-associated binding protein 1																																				SO:0001589	frameshift_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381536_144381537insC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1705dupC	4.37:g.144381542_144381542dupC	ENSP00000262994:p.Ser567fs		Somatic				GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	p.P597fs	NM_207123.2	NP_997006.1	WXS	Illumina GAIIx	Phase_I	Q13480	GAB1_HUMAN			9	2216_2217	+	all_hematologic(180;0.158)		567					A8K152|Q4W5G2|Q6P1W2	Frame_Shift_Ins	INS	ENST00000262994.4	37	c.1789_1790insC	CCDS3759.1																																																																																				0.406	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		7	326						7	326	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)accfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs		Somatic				SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs	p.T1044fs			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693_3694	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	155						8	155	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs		Somatic					p.G11fs	NM_003265.2	NP_003256.1	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			7	201						7	201	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187178498	187178499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr4:187178498_187178499insG	ENST00000264690.6	+	14	1891_1892	c.1704_1705insG	c.(1705-1707)gggfs	p.G569fs	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	569	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCTATAAAGAAGGGGGAAAAGA	0.322																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1702-1707)gaggggfs		kallikrein B, plasma (Fletcher factor) 1																																				SO:0001589	frameshift_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187178498_187178499insG	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1709dupG	4.37:g.187178503_187178503dupG	ENSP00000264690:p.Gly569fs		Somatic				KLKB1_ENST00000513864.1_Intron	p.EG568fs	NM_000892.3	NP_000883.2	WXS	Illumina GAIIx	Phase_I	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	14	1891_1892	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	568			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Frame_Shift_Ins	INS	ENST00000264690.6	37	c.1704_1705insG	CCDS34120.1																																																																																				0.322	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		7	294						7	294	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564																																						ENST00000513610.1																			1	Insertion - Frameshift(1)	p.S1226fs*25(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3673-3675)gtcfs		myosin X				37,3583		4,29,1777						2.5	1.0			84	28,7806		3,22,3892	no	frameshift	MYO10	NM_012334.2		7,51,5669	A1A1,A1R,RR		0.3574,1.0221,0.5675				65,11389				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694605_16694606insC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3675dupG	5.37:g.16694613_16694613dupC	ENSP00000421280:p.Gly1225fs		Somatic				MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs	p.V1225fs	NM_012334.2	NP_036466.2	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			27	4128_4129	-			1225			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.3674_3675insG	CCDS54834.1																																																																																				0.564	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		23	226						23	226	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37108532	37108533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:37108532_37108533insT	ENST00000508244.1	-	50	9372_9373	c.9279_9280insA	c.(9277-9282)aaacatfs	p.H3094fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.H3094fs|C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.H1992fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3094						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5971-5976)aaatggfs		chromosome 5 open reading frame 42																																				SO:0001589	frameshift_variant	65250							g.chr5:37108532_37108533insT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9280dupA	5.37:g.37108539_37108539dupT	ENSP00000421690:p.His3094fs		Somatic				C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.W3094fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.W3094fs	p.W1992fs			WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		51	9560_9561	-	all_lung(31;0.000616)		3094					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	ENST00000508244.1	37	c.5973_5974insA	CCDS34146.2																																																																																				0.431	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		10	530						10	530	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs		Somatic				FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		13	258						13	258	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs		Somatic				C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	215						7	215	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000499459.2_RNA|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs		Somatic				MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs	p.*85fs			WXS	Illumina GAIIx	Phase_I	O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		8	198						8	198	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	401						8	401	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		11	207						11	207	---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83360606	83360607	+	Frame_Shift_Ins	INS	-	-	G	rs192448414	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:83360606_83360607insG	ENST00000296591.5	-	8	1282_1283	c.864_865insC	c.(862-867)cccatafs	p.I289fs	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.I279fs	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	289	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(862-867)cctaaafs		EGF-like repeats and discoidin I-like domains 3																																				SO:0001589	frameshift_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83360606_83360607insG	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.865dupC	5.37:g.83360612_83360612dupG	ENSP00000296591:p.Ile289fs		Somatic				EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.K279fs|EDIL3_ENST00000510271.1_5'UTR	p.K289fs	NM_005711.3	NP_005702.3	WXS	Illumina GAIIx	Phase_I	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	8	1282_1283	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	289			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Frame_Shift_Ins	INS	ENST00000296591.5	37	c.864_865insC	CCDS4062.1																																																																																				0.391	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		7	318						7	318	---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90667241	90667243	+	In_Frame_Del	DEL	ATC	ATC	-	rs201163117		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:90667241_90667243delATC	ENST00000265138.3	-	8	1485_1487	c.1219_1221delGAT	c.(1219-1221)gatdel	p.D407del		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	407					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		AGGATGGTCTATCATCTGCTGAC	0.414																																						ENST00000265138.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(1219-1221)del		arrestin domain containing 3																																				SO:0001651	inframe_deletion	57561				signal transduction	cytoplasm	protein binding	g.chr5:90667241_90667243delATC	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1219_1221delGAT	5.37:g.90667244_90667246delATC	ENSP00000265138:p.Asp407del		Somatic					p.D407del	NM_020801.2	NP_065852.1	WXS	Illumina GAIIx	Phase_I	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	8	1485_1487	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	407					A8K6T8|Q9P2H1	In_Frame_Del	DEL	ENST00000265138.3	37	c.1219_1221delGAT	CCDS34202.1																																																																																				0.414	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		10	128						10	128	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		12	358						12	358	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	1156						10	1156	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		Somatic	OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	WXS	Illumina GAIIx	Phase_I	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		8	917						8	917	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:135207263_135207264insG	ENST00000420621.1	+	5	707_708	c.535_536insG	c.(535-537)cggfs	p.R179fs	SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.R125fs|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(535-537)gggfs		solute carrier family 25, member 48																																				SO:0001589	frameshift_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207263_135207264insG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.541dupG	5.37:g.135207269_135207269dupG	ENSP00000407973:p.Arg179fs		Somatic				SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron	p.G179fs			WXS	Illumina GAIIx	Phase_I	Q6ZT89	S2548_HUMAN			5	707_708	+			179					Q8TAV9	Frame_Shift_Ins	INS	ENST00000420621.1	37	c.535_536insG																																																																																					0.604	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		8	378						8	378	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs		Somatic					p.TP331fs	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		8	160						8	160	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.51																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(184-186)gggfs						0,4264		0,0,2132						0.4	0.0			90	1,8253		0,1,4126	no	frameshift	PCDHB12	NM_018932.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588663_140588664insG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.190dupG	5.37:g.140588669_140588669dupG	ENSP00000239450:p.Arg62fs		Somatic				PCDHB12_ENST00000541609.1_Intron	p.G62fs	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	373_374	+			62			Cadherin 1.		B4DDU1	Frame_Shift_Ins	INS	ENST00000239450.2	37	c.184_185insG	CCDS4254.1																																																																																				0.510	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		8	191						8	191	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865128	140865129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140865128_140865129insC	ENST00000306593.1	+	1	388_389	c.388_389insC	c.(388-390)gccfs	p.A130fs	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATCACGCCCCCCGTTTT	0.574																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(388-390)cccfs																																						SO:0001589	frameshift_variant	56098							g.chr5:140865128_140865129insC	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.394dupC	5.37:g.140865134_140865134dupC	ENSP00000306918:p.Ala130fs		Somatic				PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	p.P130fs	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	388_389	+								Q495T2|Q9Y5C3	Frame_Shift_Ins	INS	ENST00000306593.1	37	c.388_389insC	CCDS4262.1																																																																																				0.574	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		8	437						8	437	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		15	766						15	766	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs		Somatic				ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	p.P743fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		11	800						11	800	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		21	418						21	418	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:142586762_142586763insC	ENST00000274498.4	+	21	2366_2367		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000378004.3_Splice_Site	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579																																						ENST00000378004.3																			1	Unknown(1)	p.?(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.e21-1		Rho GTPase activating protein 26																																				SO:0001630	splice_region_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142586762_142586763insC	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1989-1->C	5.37:g.142586768_142586768dupC			Somatic				ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron		NM_001135608.1	NP_001129080.1	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	2343_2344	+		all_hematologic(541;0.0416)						O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	INS	ENST00000274498.4	37		CCDS4277.1																																																																																				0.579	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Intron	12	457						12	457	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		13	712						13	712	---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175111290	175111291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:175111290_175111291insC	ENST00000231683.2	+	1	2827_2828	c.1054_1055insC	c.(1054-1056)gccfs	p.A352fs	HRH2_ENST00000377291.2_Frame_Shift_Ins_p.A352fs	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	352					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	AGAAGTCACGGCCCCCCAGGGA	0.589																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(1054-1056)cccfs		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)																																			SO:0001589	frameshift_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111290_175111291insC		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.1060dupC	5.37:g.175111296_175111296dupC	ENSP00000231683:p.Ala352fs		Somatic				HRH2_ENST00000377291.2_Frame_Shift_Ins_p.P352fs	p.P352fs	NM_022304.2	NP_071640.1	WXS	Illumina GAIIx	Phase_I	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2827_2828	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	352					B5BUP7|Q14464|Q7Z5R9	Frame_Shift_Ins	INS	ENST00000231683.2	37	c.1054_1055insC	CCDS4395.1																																																																																				0.589	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			7	547						7	547	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs		Somatic				KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	p.D274fs	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		10	453						10	453	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178541085	178541086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:178541085_178541086insG	ENST00000251582.7	-	22	3519_3520	c.3418_3419insC	c.(3418-3420)ctgfs	p.L1140fs		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1140					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGGACCTCCAGGGGGGTGCTT	0.569																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3418-3420)ggafs		ADAM metallopeptidase with thrombospondin type 1 motif, 2																																				SO:0001589	frameshift_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541085_178541086insG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3419dupC	5.37:g.178541091_178541091dupG	ENSP00000251582:p.Leu1140fs		Somatic					p.G1140fs	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3519_3520	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1140						Frame_Shift_Ins	INS	ENST00000251582.7	37	c.3418_3419insC	CCDS4444.1																																																																																				0.569	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		8	445						8	445	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs		Somatic				EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	WXS	Illumina GAIIx	Phase_I	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		7	298						7	298	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		17	340						17	340	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		13	1317						13	1317	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		18	269						18	269	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG			Somatic				BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice	p.A978_splice			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	8	207						8	207	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			14	374						14	374	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(721-726)acccccfs		mitogen-activated protein kinase 14																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC			Somatic				MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron	p.TP241fs	NM_001315.2	NP_001306.1	WXS	Illumina GAIIx	Phase_I	Q16539	MK14_HUMAN			9	1170_1171	+			241			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		9	362						9	362	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	421						7	421	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs		Somatic					p.K163fs	NM_033515.2	NP_277050.2	WXS	Illumina GAIIx	Phase_I	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	367						7	367	---	---	---	---
IPCEF1	26034	broad.mit.edu	37	6	154481012	154481013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:154481012_154481013insG	ENST00000265198.4	-	12	1419_1420	c.1264_1265insC	c.(1264-1266)cagfs	p.Q422fs	IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.Q423fs|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.Q423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.Q394fs|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	422					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTTGAGTTCCTGGGGGGTGTCA	0.46																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(1264-1266)ggafs		interaction protein for cytohesin exchange factors 1																																				SO:0001589	frameshift_variant	26034							g.chr6:154481012_154481013insG	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1265dupC	6.37:g.154481018_154481018dupG	ENSP00000265198:p.Gln422fs		Somatic				OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.G423fs|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.G423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.G394fs	p.G422fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	WXS	Illumina GAIIx	Phase_I					12	1419_1420	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Frame_Shift_Ins	INS	ENST00000265198.4	37	c.1264_1265insC	CCDS5245.1																																																																																				0.460	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		8	256						8	256	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			7	213						7	213	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTGTGCCTCCCGGGGGGGAGGT	0.569																																						ENST00000486256.1																			0																																																			441194							g.chr7:6759412_6759413insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759419_6759419dupG			Somatic						NR_002217.1		WXS	Illumina GAIIx	Phase_I					0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.569	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		9	177						9	177	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs		Somatic				AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs	p.G69fs	NM_007342.2	NP_031368.1	WXS	Illumina GAIIx	Phase_I	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		18	213						18	213	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-576)gtccccfs		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs		Somatic				AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	p.VP191fs	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			8	419						8	419	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:92761061delT	ENST00000318238.4	-	5	5440	c.4224delA	c.(4222-4224)aaafs	p.K1408fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1408					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCGGAGTTGTTTTTTTAGCG	0.408																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4222-4224)aafs		sterile alpha motif domain containing 9-like				3,4257		1,1,2128	157.0	157.0	157.0			3.3	1.0	7		156	0,8254		0,0,4127	no	frameshift	SAMD9L	NM_152703.2		1,1,6255	A1A1,A1R,RR		0.0,0.0704,0.024			92761061	3,12511	2203	4300	6503	SO:0001589	frameshift_variant	219285							g.chr7:92761061delT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4224delA	7.37:g.92761061delT	ENSP00000326247:p.Lys1408fs		Somatic				SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs	p.K1408fs	NM_152703.2	NP_689916.2	WXS	Illumina GAIIx	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5440	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1408					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.4224delA	CCDS34681.1																																																																																				0.408	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		9	1526						9	1526	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(301-306)gcggggfs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479331_100479332insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs		Somatic				SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs	p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina GAIIx	Phase_I	Q9BXP5	SRRT_HUMAN			4	523_524	+			101					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.303_304insG	CCDS34709.1																																																																																				0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		14	216						14	216	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		11	1806						11	1806	---	---	---	---
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092039	139092040	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:139092039_139092040insG	ENST00000354926.4	+	6	984_985	c.630_631insG	c.(631-633)gggfs	p.G211fs	C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Ins_p.G208fs|LUC7L2_ENST00000541515.3_Frame_Shift_Ins_p.G277fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Ins_p.G210fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CTGATCATTTTGGGGGTAAACT	0.401																																						ENST00000354926.4																			0											c.(628-633)ttggggfs																																						SO:0001589	frameshift_variant	100996928							g.chr7:139092039_139092040insG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.635dupG	7.37:g.139092044_139092044dupG	ENSP00000347005:p.Gly211fs		Somatic				LUC7L2_ENST00000541515.3_Frame_Shift_Ins_p.LG276fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Ins_p.LG209fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Ins_p.LG207fs	p.LG210fs	NM_016019.3	NP_057103.2	WXS	Illumina GAIIx	Phase_I					6	984_985	+									Frame_Shift_Ins	INS	ENST00000354926.4	37	c.630_631insG	CCDS43656.1																																																																																				0.401	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			7	240						7	240	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		8	706						8	706	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	10						6	10	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28633353	28633354	+	Frame_Shift_Ins	INS	-	-	G	rs148560235		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr8:28633353_28633354insG	ENST00000521022.1	-	14	1566_1567	c.1485_1486insC	c.(1483-1488)cccgccfs	p.A496fs	INTS9_ENST00000397363.4_Frame_Shift_Ins_p.A390fs|INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000416984.2_Frame_Shift_Ins_p.A475fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.A472fs	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	496					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TAGGACATGGCGGGGGGCTGGC	0.619																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1420-1425)ccccatfs		integrator complex subunit 9																																				SO:0001589	frameshift_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633353_28633354insG	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1486dupC	8.37:g.28633359_28633359dupG	ENSP00000429065:p.Ala496fs		Somatic				INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs	p.H475fs	NM_001145159.2	NP_001138631.1	WXS	Illumina GAIIx	Phase_I	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	13	1781_1782	-		Ovarian(32;0.0439)	496					B7Z560|B7Z6M5|O00224|Q8TB16	Frame_Shift_Ins	INS	ENST00000521022.1	37	c.1422_1423insC	CCDS34873.1																																																																																				0.619	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		8	127						8	127	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2227-2229)gggfs	p.G743fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.G700fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.G596fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CGGACCTCGGAGGGGGGAAGAT	0.51																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2224-2229)ggggggfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204925_27204926insG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2232dupG	9.37:g.27204931_27204931dupG	ENSP00000369375:p.Gly743fs		Somatic				TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	p.GG742fs	NM_000459.3	NP_000450.2	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2668_2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	742					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.2226_2227insG	CCDS6519.1																																																																																				0.510	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			7	288						7	288	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		10	206						10	206	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117108194	117108194	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr9:117108194delC	ENST00000307564.4	-	18	3771	c.3610delG	c.(3610-3612)gtgfs	p.V1204fs	AKNA_ENST00000374079.4_Frame_Shift_Del_p.V149fs|AKNA_ENST00000374088.3_Frame_Shift_Del_p.V1204fs|AKNA_ENST00000374075.5_Frame_Shift_Del_p.V1123fs|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Frame_Shift_Del_p.V664fs	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1204					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCACTGCCCACCCCTCTCTTT	0.617																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3610-3612)tgfs		AT-hook transcription factor							91.0	79.0	83.0					9																	117108194		2203	4300	6503	SO:0001589	frameshift_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117108194delC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3610delG	9.37:g.117108194delC	ENSP00000303769:p.Val1204fs		Somatic				AKNA_ENST00000374088.3_Frame_Shift_Del_p.V1204fs|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Frame_Shift_Del_p.V664fs|AKNA_ENST00000374075.5_Frame_Shift_Del_p.V1123fs|AKNA_ENST00000374079.4_Frame_Shift_Del_p.V149fs	p.V1204fs	NM_030767.4	NP_110394.3	WXS	Illumina GAIIx	Phase_I	Q7Z591	AKNA_HUMAN			18	3771	-			1204					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Frame_Shift_Del	DEL	ENST00000307564.4	37	c.3610delG	CCDS6805.1																																																																																				0.617	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		18	96						18	96	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1456-1458)cccfs	p.P486fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.49																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1453-1458)atccccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa																																				SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006928_8006929insC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1461dupC	10.37:g.8006934_8006934dupC	ENSP00000340271:p.Pro486fs		Somatic					p.IP485fs	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	1661_1662	+			485					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Ins	INS	ENST00000344293.5	37	c.1455_1456insC	CCDS41487.1																																																																																				0.490	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		7	479						7	479	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs		Somatic				PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	p.G211fs			WXS	Illumina GAIIx	Phase_I	O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			15	846						15	846	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G	rs577492421		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)cagfs	p.Q3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.45																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10285-10287)gaafs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877089_16877090insG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10286dupC	10.37:g.16877095_16877095dupG	ENSP00000367064:p.Gln3429fs		Somatic					p.E3429fs	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			64	10350_10351	-			3429			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.10285_10286insC	CCDS7113.1																																																																																				0.450	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	697						7	697	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G	rs573639267	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:21962451_21962452insG	ENST00000307729.7	+	11	1402_1403	c.1224_1225insG	c.(1225-1227)gggfs	p.G409fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377072.3_Frame_Shift_Ins_p.G409fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Insertion - Frameshift(1)	p.V411fs*3(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1222-1227)gaggggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10																																				SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962451_21962452insG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1231dupG	10.37:g.21962458_21962458dupG	ENSP00000307411:p.Gly409fs		Somatic				MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs	p.EG408fs	NM_004641.3	NP_004632.1	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			11	1572_1573	+			408			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Ins	INS	ENST00000307729.7	37	c.1224_1225insG	CCDS55708.1																																																																																				0.436	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			21	735						21	735	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:24832466_24832467insC	ENST00000376454.3	+	19	4297_4298	c.4267_4268insC	c.(4267-4269)accfs	p.T1423fs	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.T1106fs|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1423					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAGAGATGACCCCCCGACAA	0.495																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3316-3318)cccfs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832466_24832467insC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4273dupC	10.37:g.24832472_24832472dupC	ENSP00000365637:p.Thr1423fs		Somatic				KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000376452.3_Intron	p.P1106fs			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			14	3576_3577	+			1423					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	c.3316_3317insC	CCDS31165.1																																																																																				0.495	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		9	517						9	517	---	---	---	---
MKX	283078	broad.mit.edu	37	10	28023574	28023575	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:28023574_28023575insG	ENST00000375790.5	-	5	1080_1081	c.648_649insC	c.(646-651)cccaaafs	p.K217fs	MKX_ENST00000419761.1_Frame_Shift_Ins_p.K217fs			Q8IYA7	MKX_HUMAN	mohawk homeobox	217					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P216P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTCTTGTATTTGGGGGGTGCCA	0.485																																						ENST00000375790.5																			1	Substitution - coding silent(1)	p.P216P(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(646-651)ccaatafs		mohawk homeobox																																				SO:0001589	frameshift_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023574_28023575insG	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.649dupC	10.37:g.28023580_28023580dupG	ENSP00000364946:p.Lys217fs		Somatic				MKX_ENST00000419761.1_Frame_Shift_Ins_p.I217fs	p.I217fs			WXS	Illumina GAIIx	Phase_I	Q8IYA7	MKX_HUMAN			5	1080_1081	-			217					B3KWM5	Frame_Shift_Ins	INS	ENST00000375790.5	37	c.648_649insC	CCDS7156.1																																																																																				0.485	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		7	393						7	393	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	384						12	384	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)ggafs	p.G349fs	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.G349fs|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1045-1047)gaafs		zinc finger protein 248																																				SO:0001589	frameshift_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121236_38121237insC	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1047dupG	10.37:g.38121242_38121242dupC	ENSP00000379208:p.Gly349fs		Somatic				ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	p.E349fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	WXS	Illumina GAIIx	Phase_I	Q8NDW4	ZN248_HUMAN			6	1596_1597	-			349					Q8NDV8|Q9UMP3	Frame_Shift_Ins	INS	ENST00000395867.3	37	c.1046_1047insG	CCDS7194.1																																																																																				0.401	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		12	702						12	702	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43294047	43294048	+	Frame_Shift_Ins	INS	-	-	C	rs545682102		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:43294047_43294048insC	ENST00000374518.5	+	12	2284_2285	c.2221_2222insC	c.(2221-2223)gccfs	p.A741fs		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	741					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTTGTGGAGGCCCCCCATGAC	0.431																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2221-2223)cccfs		BMS1 ribosome biogenesis factor																																				SO:0001589	frameshift_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43294047_43294048insC	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2227dupC	10.37:g.43294053_43294053dupC	ENSP00000363642:p.Ala741fs		Somatic					p.P741fs	NM_014753.3	NP_055568.3	WXS	Illumina GAIIx	Phase_I	Q14692	BMS1_HUMAN			12	2284_2285	+			741					Q5QPT5|Q86XJ9	Frame_Shift_Ins	INS	ENST00000374518.5	37	c.2221_2222insC	CCDS7199.1																																																																																				0.431	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		7	821						7	821	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50530937	50530938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:50530937_50530938insC	ENST00000374144.3	+	3	635_636	c.347_348insC	c.(346-351)agccccfs	p.SP116fs	C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.SP116fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCAA	0.545																																						ENST00000374144.3																			0				endometrium(1)	1						c.(346-348)accfs		chromosome 10 open reading frame 71																																				SO:0001589	frameshift_variant	118461							g.chr10:50530937_50530938insC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.353dupC	10.37:g.50530943_50530943dupC	ENSP00000363259:p.Ser116fs		Somatic				C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs	p.T116fs			WXS	Illumina GAIIx	Phase_I	Q711Q0	CJ071_HUMAN			3	635_636	+			116					A0AVL8	Frame_Shift_Ins	INS	ENST00000374144.3	37	c.347_348insC	CCDS44387.1																																																																																				0.545	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		7	691						7	691	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50857606	50857607	+	Frame_Shift_Ins	INS	-	-	C	rs3793795		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:50857606_50857607insC	ENST00000337653.2	+	10	1588_1589	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs	CHAT_ENST00000395562.2_Frame_Shift_Ins_p.A397fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000395559.2_Frame_Shift_Ins_p.A361fs	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	479					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CGAGCTCCCCGCCCCCCGGAGG	0.609																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1189-1191)cccfs		choline O-acetyltransferase	Choline(DB00122)																																			SO:0001589	frameshift_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857606_50857607insC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1441dupC	10.37:g.50857612_50857612dupC	ENSP00000337103:p.Ala479fs		Somatic				CHAT_ENST00000339797.1_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000337653.2_Frame_Shift_Ins_p.P479fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000395559.2_Frame_Shift_Ins_p.P361fs	p.P397fs	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	11	1658_1659	+		all_neural(218;0.107)	479					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Frame_Shift_Ins	INS	ENST00000337653.2	37	c.1189_1190insC	CCDS7232.1																																																																																				0.609	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	142						7	142	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG			Somatic						NR_038275.1		WXS	Illumina GAIIx	Phase_I					0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			8	534						8	534	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53458899	53458900	+	Frame_Shift_Ins	INS	-	-	G	rs181270695	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:53458899_53458900insG	ENST00000331173.4	-	1	455_456	c.410_411insC	c.(409-411)ccgfs	p.P137fs	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	137					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ACATCTGCTCCGGGGGGAGACT	0.515																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(409-411)cgafs		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant																																				SO:0001589	frameshift_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458899_53458900insG	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.411dupC	10.37:g.53458905_53458905dupG	ENSP00000332444:p.Pro137fs		Somatic				PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.R137fs	NM_015235.2	NP_056050.1	WXS	Illumina GAIIx	Phase_I	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	455_456	-			137					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Frame_Shift_Ins	INS	ENST00000331173.4	37	c.410_411insC	CCDS7245.1																																																																																				0.515	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		7	258						7	258	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs		Somatic					p.G233fs	NM_014431.2	NP_055246.2	WXS	Illumina GAIIx	Phase_I					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		11	1080						11	1080	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	36	781						36	781	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs		Somatic				CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs	p.P572fs	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		11	701						11	701	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:93272060_93272061insC	ENST00000298068.5	+	21	2344_2345	c.2250_2251insC	c.(2251-2253)cccfs	p.P751fs	HECTD2_ENST00000446394.1_Frame_Shift_Ins_p.P755fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.P340fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.P401fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2260-2265)ctccccfs		HECT domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93272060_93272061insC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2256dupC	10.37:g.93272066_93272066dupC	ENSP00000298068:p.Pro751fs		Somatic				HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs	p.LP754fs			WXS	Illumina GAIIx	Phase_I	Q5U5R9	HECD2_HUMAN			22	2362_2363	+			750			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Ins	INS	ENST00000298068.5	37	c.2262_2263insC	CCDS7414.1																																																																																				0.356	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			11	870						11	870	---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98079053	98079054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:98079053_98079054insC	ENST00000371174.2	+	3	515_516	c.413_414insC	c.(412-417)ggccccfs	p.GP138fs	DNTT_ENST00000419175.1_Frame_Shift_Ins_p.GP138fs			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	138					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ACCAACCCAGGCCCCCCGAAGA	0.396																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(412-414)gccfs		DNA nucleotidylexotransferase																																				SO:0001589	frameshift_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98079053_98079054insC	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.419dupC	10.37:g.98079059_98079059dupC	ENSP00000360216:p.Gly138fs		Somatic				DNTT_ENST00000371174.2_Frame_Shift_Ins_p.A138fs	p.A138fs	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	WXS	Illumina GAIIx	Phase_I	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	3	583_584	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	138					Q53FH1|Q5W103|Q96E50	Frame_Shift_Ins	INS	ENST00000371174.2	37	c.413_414insC	CCDS7447.1																																																																																				0.396	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		7	316						7	316	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-174)gaggggfs	p.EG57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(169-171)gggfs		cutC copper transporter																																				SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101499503_101499504insG	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.176dupG	10.37:g.101499509_101499509dupG	ENSP00000359507:p.Glu57fs		Somatic				CUTC_ENST00000493385.1_3'UTR	p.G57fs	NM_015960.2	NP_057044.2	WXS	Illumina GAIIx	Phase_I	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	3	299_300	+		Colorectal(252;0.234)	57					Q5TCZ8|Q9Y321	Frame_Shift_Ins	INS	ENST00000370476.5	37	c.170_171insG	CCDS7483.1																																																																																				0.401	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		8	632						8	632	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	24	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> E (probable disease-associated mutation found in a patient with renal hypodysplasia). {ECO:0000269|PubMed:21380624}.		aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(67-72)ctggggfs		paired box 2																																				SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509528_102509529insG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.76dupG	10.37:g.102509535_102509535dupG	ENSP00000396259:p.Gly24fs		Somatic				PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs	p.LG23fs			WXS	Illumina GAIIx	Phase_I	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	619_620	+		Colorectal(252;0.234)	23			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	c.69_70insG	CCDS53569.1																																																																																				0.663	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				11	91						11	91	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104164414	104164415	+	Frame_Shift_Ins	INS	-	-	G	rs375125392		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:104164414_104164415insG	ENST00000020673.5	-	15	3151_3152	c.2625_2626insC	c.(2623-2628)cccttcfs	p.F876fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.F876fs	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	876					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAGCTGGGAAGGGGGGCGCAG	0.609																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2623-2628)cctcccfs		pleckstrin and Sec7 domain containing																																				SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164414_104164415insG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2626dupC	10.37:g.104164420_104164420dupG	ENSP00000020673:p.Phe876fs		Somatic				PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs	p.P876fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3151_3152	-			876					B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.2625_2626insC	CCDS31272.1																																																																																				0.609	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			11	844						11	844	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs		Somatic					p.VP196fs	NM_139169.4	NP_631908.1	WXS	Illumina GAIIx	Phase_I	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		15	329						15	329	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119014791	119014792	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:119014791_119014792insC	ENST00000298472.5	+	7	847_848	c.704_705insC	c.(703-708)ggccccfs	p.GP235fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTGCAGTGGGCCCCCCCTTCG	0.569																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(703-705)gccfs		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)																																			SO:0001589	frameshift_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119014791_119014792insC	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.711dupC	10.37:g.119014798_119014798dupC	ENSP00000298472:p.Gly235fs		Somatic				SLC18A2_ENST00000497497.1_3'UTR	p.A235fs	NM_003054.4	NP_003045.2	WXS	Illumina GAIIx	Phase_I	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	7	847_848	+		Colorectal(252;0.19)	235					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Frame_Shift_Ins	INS	ENST00000298472.5	37	c.704_705insC	CCDS7599.1																																																																																				0.569	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		9	173						9	173	---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124754014	124754015	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:124754014_124754015insC	ENST00000368886.5	-	5	861_862	c.541_542insG	c.(541-543)gttfs	p.V181fs	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTTCTGTAAAACCCCCCACATT	0.426																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(541-543)tttfs		IKAROS family zinc finger 5 (Pegasus)																																				SO:0001589	frameshift_variant	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124754014_124754015insC	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.542dupG	10.37:g.124754020_124754020dupC	ENSP00000357881:p.Val181fs		Somatic				PSTK_ENST00000497219.1_Intron	p.F181fs	NM_001271840.1	NP_001258769.1	WXS	Illumina GAIIx	Phase_I	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	861_862	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	181					B3KVH7|D3DRE7|Q9H2T0	Frame_Shift_Ins	INS	ENST00000368886.5	37	c.541_542insG	CCDS41574.1																																																																																				0.426	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		10	481						10	481	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			11	297						11	297	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	564						7	564	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs		Somatic				EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs	p.R788fs	NM_001172705.1	NP_001166176.1	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		9	177						9	177	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs		Somatic				APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	p.N202fs	NM_015957.2	NP_057041.2	WXS	Illumina GAIIx	Phase_I	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		11	729						11	729	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47282886	47282887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:47282886_47282887insC	ENST00000467728.1	+	4	1832_1833	c.594_595insC	c.(595-597)cccfs	p.P199fs	NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.P108fs|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.P199fs			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	199					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGCTTCCTCACCCCCCCAAAT	0.594																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(592-597)tcccccfs		nuclear receptor subfamily 1, group H, member 3			,,	9,4255		0,9,2123					,,	-10.7	0.0			55	7,8247		0,7,4120	no	frameshift,frameshift,frameshift	NR1H3	NM_005693.2,NM_001130102.1,NM_001130101.1	,,	0,16,6243	A1A1,A1R,RR		0.0848,0.2111,0.1278	,,	,,		16,12502				SO:0001589	frameshift_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282886_47282887insC	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.601dupC	11.37:g.47282893_47282893dupC	ENSP00000420656:p.Pro199fs		Somatic				NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.SP107fs	p.SP198fs			WXS	Illumina GAIIx	Phase_I	Q13133	NR1H3_HUMAN			4	1832_1833	+			198					A8K3J9|D3DQR1|Q8IW13|Q96H87	Frame_Shift_Ins	INS	ENST00000467728.1	37	c.594_595insC	CCDS7929.1																																																																																				0.594	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			8	78						8	78	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		8	875						8	875	---	---	---	---
OR5AR1	219493	broad.mit.edu	37	11	56431466	56431467	+	Frame_Shift_Ins	INS	-	-	T	rs202067264		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:56431466_56431467insT	ENST00000302969.2	+	1	329_330	c.305_306insT	c.(304-309)gcttttfs	p.AF102fs		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ACCCAGTTTGCTTTTTTTGTAG	0.51																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(304-306)gttfs		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)				0,4262		0,0,2131						4.0	1.0			168	2,8248		0,2,4123	no	frameshift	OR5AR1	NM_001004730.1		0,2,6254	A1A1,A1R,RR		0.0242,0.0,0.016				2,12510				SO:0001589	frameshift_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431466_56431467insT	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.312dupT	11.37:g.56431473_56431473dupT	ENSP00000302639:p.Ala102fs		Somatic					p.V102fs	NM_001004730.1	NP_001004730.1	WXS	Illumina GAIIx	Phase_I	Q8NGP9	O5AR1_HUMAN			1	329_330	+			102					Q6IF61	Frame_Shift_Ins	INS	ENST00000302969.2	37	c.305_306insT	CCDS31535.1																																																																																				0.510	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		8	738						8	738	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		10	314						10	314	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG			Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site		NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	7	355						7	355	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs		Somatic				BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs	p.D325fs			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		13	217						13	217	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs		Somatic				DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			9	222						9	222	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gaafs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)																																			SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433066_67433067insC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs		Somatic				ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	p.E132fs	NM_000695.3	NP_000686.2	WXS	Illumina GAIIx	Phase_I	P48448	AL3B2_HUMAN			7	833_834	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	ENST00000349015.3	37	c.395_396insG	CCDS31622.1																																																																																				0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		9	604						9	604	---	---	---	---
ALDH3B1	221	broad.mit.edu	37	11	67789023	67789024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:67789023_67789024insG	ENST00000539229.1	+	8	745_746	c.629_630insG	c.(628-633)ctggggfs	p.LG210fs	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Frame_Shift_Ins_p.LG174fs|ALDH3B1_ENST00000007633.8_Frame_Shift_Ins_p.LG210fs|ALDH3B1_ENST00000316367.6_Intron	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	211					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										ACCCTGGAGCTGGGGGGCAAGA	0.634											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539229.1																			0											c.(628-630)cggfs		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)																																			SO:0001589	frameshift_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789023_67789024insG	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.635dupG	11.37:g.67789029_67789029dupG	ENSP00000474034:p.Leu210fs		Somatic	OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1102	ALDH3B1_ENST00000007633.8_Frame_Shift_Ins_p.R210fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Frame_Shift_Ins_p.R174fs	p.R210fs	NM_001161473.1	NP_001154945.1	WXS	Illumina GAIIx	Phase_I	P43353	AL3B1_HUMAN			8	745_746	+			211					A3FMP9|Q53XL5|Q8N515|Q96CK8	Frame_Shift_Ins	INS	ENST00000539229.1	37	c.629_630insG																																																																																					0.634	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		7	449						7	449	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs		Somatic				RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina GAIIx	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		17	480						17	480	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																						ENST00000453129.2																			1	Insertion - Frameshift(1)	p.L14fs*24(1)	ovary(1)	large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(31-36)ctggggfs		claudin 25																																				SO:0001589	frameshift_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650550_113650551insG		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs		Somatic					p.LG11fs	NM_001101389.1	NP_001094859.1	WXS	Illumina GAIIx	Phase_I	C9JDP6	CLD25_HUMAN			1	82_83	+			11						Frame_Shift_Ins	INS	ENST00000453129.2	37	c.33_34insG	CCDS44736.1																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		7	280						7	280	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	166						7	166	---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(739-741)gggfs	p.G247fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.G292fs|NCAPD3_ENST00000526787.2_5'Flank|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.G196fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	247					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(736-741)atggggfs		junctional adhesion molecule 3																																				SO:0001589	frameshift_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134018467_134018468insG	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.745dupG	11.37:g.134018474_134018474dupG	ENSP00000299106:p.Gly247fs		Somatic				JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs|JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs	p.MG246fs			WXS	Illumina GAIIx	Phase_I	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	7	897_898	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	246					B3KWG9|Q8WWL8|Q96FL1	Frame_Shift_Ins	INS	ENST00000299106.4	37	c.738_739insG	CCDS8494.2																																																																																				0.485	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		9	348						9	348	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs		Somatic					p.G909fs	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		18	313						18	313	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs		Somatic					p.R812fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	284						8	284	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		10	442						10	442	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(472-474)tccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171652_7171653insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.479dupC	12.37:g.7171658_7171658dupC	ENSP00000385035:p.Cys158fs		Somatic				C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs	p.S158fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			8	1101_1102	+			158			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.473_474insC	CCDS31735.1																																																																																				0.455	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	467						8	467	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			19	1095						19	1095	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	174						13	174	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)gatfs	p.D374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACTGTCAACATCCCCCCAGTCA	0.47																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1120-1122)tgtfs		guanylate cyclase 2C (heat stable enterotoxin receptor)																																				SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14825856_14825857insC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1121dupG	12.37:g.14825862_14825862dupC	ENSP00000261170:p.Asp374fs		Somatic				RP11-174G6.1_ENST00000501178.2_RNA	p.C374fs	NM_004963.3	NP_004954.2	WXS	Illumina GAIIx	Phase_I	P25092	GUC2C_HUMAN			9	1256_1257	-			374					B2RMY6	Frame_Shift_Ins	INS	ENST00000261170.3	37	c.1120_1121insG	CCDS8664.1																																																																																				0.470	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			10	449						10	449	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																						ENST00000261167.2																			1	Insertion - Frameshift(1)	p.G521fs*28(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1558-1560)cggfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940365_14940366insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs		Somatic				WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	p.R520fs	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	Q9Y2W2	WBP11_HUMAN			12	1792_1793	-			520			Pro-rich.		Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.1559_1560insC	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		10	310						10	310	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		10	241						10	241	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs		Somatic				PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs	p.P520fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			12	657						12	657	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-447)ttggggfs	p.LG148fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(442-444)tggfs		olfactory receptor, family 6, subfamily C, member 4																																				SO:0001589	frameshift_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945453_55945454insG	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.449dupG	12.37:g.55945459_55945459dupG	ENSP00000377799:p.Leu148fs		Somatic				RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.W148fs	NM_001005494.1	NP_001005494.1	WXS	Illumina GAIIx	Phase_I	Q8NGE1	OR6C4_HUMAN			1	471_472	+			148					A8MZG7|B2RNN2|Q6IFK1	Frame_Shift_Ins	INS	ENST00000394256.2	37	c.443_444insG	CCDS31827.1																																																																																				0.455	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			9	554						9	554	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			11	325						11	325	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs		Somatic				IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|RP11-603J24.4_ENST00000551846.1_RNA	p.G579fs			WXS	Illumina GAIIx	Phase_I	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		12	869						12	869	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		11	276						11	276	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)ggtfs		signal transducer and activator of transcription 6, interleukin-4 induced																																				SO:0001589	frameshift_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499093_57499094insG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs		Somatic				STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs	p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	WXS	Illumina GAIIx	Phase_I	P42226	STAT6_HUMAN			9	1166_1167	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	ENST00000300134.3	37	c.841_842insC	CCDS8931.1																																																																																				0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	169						11	169	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		10	1087						10	1087	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)gggctgfs	p.L58fs	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(169-174)ggtgtcfs		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)																																			SO:0001589	frameshift_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160653_58160654insC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.172dupG	12.37:g.58160660_58160660dupC	ENSP00000228606:p.Leu58fs		Somatic				RP11-571M6.13_ENST00000546609.1_RNA	p.V58fs	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	380_381	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		58					B2RC61|Q548T3	Frame_Shift_Ins	INS	ENST00000228606.4	37	c.171_172insG	CCDS8954.1																																																																																				0.599	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		10	136						10	136	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs		Somatic				BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	p.PG444fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		9	331						9	331	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	310						7	310	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs		Somatic				UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		16	306						16	306	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101876667	101876668	+	Frame_Shift_Ins	INS	-	-	G	rs140414335	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:101876667_101876668insG	ENST00000551346.1	+	5	467_468	c.308_309insG	c.(307-312)aaggggfs	p.KG103fs	SPIC_ENST00000299272.5_Frame_Shift_Ins_p.KG103fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	103					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTCCAGCAAAAGGGGGGAAAAG	0.396																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(307-309)aggfs		Spi-C transcription factor (Spi-1/PU.1 related)																																				SO:0001589	frameshift_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101876667_101876668insG	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.314dupG	12.37:g.101876673_101876673dupG	ENSP00000448580:p.Lys103fs		Somatic				SPIC_ENST00000299272.5_Frame_Shift_Ins_p.R103fs	p.R103fs			WXS	Illumina GAIIx	Phase_I	Q8N5J4	SPIC_HUMAN			5	467_468	+			103						Frame_Shift_Ins	INS	ENST00000551346.1	37	c.308_309insG	CCDS9082.1																																																																																				0.396	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		7	278						7	278	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		Somatic				HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	p.R4223fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		28	317						28	317	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		10	209						10	209	---	---	---	---
SIRT4	23409	broad.mit.edu	37	12	120750293	120750294	+	Frame_Shift_Ins	INS	-	-	G	rs546233791	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:120750293_120750294insG	ENST00000202967.4	+	3	591_592	c.532_533insG	c.(532-534)cggfs	p.R178fs	SIRT4_ENST00000537892.1_Intron|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGACTCCCCGGGGGGTGCTG	0.579																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(532-534)gggfs		sirtuin 4																																				SO:0001589	frameshift_variant	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750293_120750294insG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.538dupG	12.37:g.120750299_120750299dupG	ENSP00000202967:p.Arg178fs		Somatic				SIRT4_ENST00000537892.1_Intron	p.G178fs	NM_012240.2	NP_036372.1	WXS	Illumina GAIIx	Phase_I	Q9Y6E7	SIRT4_HUMAN			3	591_592	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		178			Deacetylase sirtuin-type.			Frame_Shift_Ins	INS	ENST00000202967.4	37	c.532_533insG	CCDS9194.1																																																																																				0.579	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		10	324						10	324	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720396	122720397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:122720396_122720397insC	ENST00000267199.4	-	11	1488_1489	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.G420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATTGTTTCTGCCCCCCGTCTG	0.495																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1375-1377)gagfs		vacuolar protein sorting 33 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122720396_122720397insC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1377dupG	12.37:g.122720402_122720402dupC	ENSP00000267199:p.Gly459fs		Somatic				RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs	p.E459fs	NM_022916.4	NP_075067.2	WXS	Illumina GAIIx	Phase_I	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	11	1488_1489	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		459					Q547V4|Q9H5Q0	Frame_Shift_Ins	INS	ENST00000267199.4	37	c.1376_1377insG	CCDS9231.1																																																																																				0.495	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			7	367						7	367	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	EP400_ENST00000389561.2_Frame_Shift_Ins_p.P518fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.P518fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P481fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.P517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	554					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1657-1662)atccccfs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466645_132466646insC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1665dupC	12.37:g.132466651_132466651dupC	ENSP00000333602:p.Pro554fs		Somatic				EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs	p.IP553fs			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1768_1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	553					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.1659_1660insC																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	476						7	476	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:25262563_25262564insG	ENST00000381946.3	+	4	502_503	c.335_336insG	c.(334-339)gtggggfs	p.VG112fs	ATP12A_ENST00000218548.6_Frame_Shift_Ins_p.VG112fs			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAGCAGATGGTGGGGGGGTTCT	0.584																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.V112V(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(334-336)gggfs		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)		,	1,4263		0,1,2131					,	5.0	1.0		dbSNP_126	234	5,8249		0,5,4122	no	frameshift,frameshift	ATP12A	NM_001676.5,NM_001185085.1	,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,	,		6,12512				SO:0001589	frameshift_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262563_25262564insG	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.342dupG	13.37:g.25262570_25262570dupG	ENSP00000371372:p.Val112fs		Somatic				ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina GAIIx	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	668_669	+		Lung SC(185;0.0225)|Breast(139;0.077)	112					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Frame_Shift_Ins	INS	ENST00000381946.3	37	c.335_336insG	CCDS31948.1																																																																																				0.584	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		87	2323						87	2323	---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27255386	27255387	+	Frame_Shift_Ins	INS	-	-	C	rs529756888|rs141429361	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:27255386_27255387insC	ENST00000335327.5	+	8	1090_1091	c.912_913insC	c.(913-915)cccfs	p.P305fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P302fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	305	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(901-906)ccccccfs		WAS protein family, member 3				82,4062		3,76,1993						-6.7	0.1			31	128,8010		7,114,3948	no	frameshift	WASF3	NM_006646.5		10,190,5941	A1A1,A1R,RR		1.5729,1.9788,1.7098				210,12072				SO:0001589	frameshift_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255386_27255387insC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.920dupC	13.37:g.27255394_27255394dupC	ENSP00000335055:p.Pro305fs		Somatic				WASF3_ENST00000335327.5_Frame_Shift_Ins_p.PP304fs	p.PP301fs			WXS	Illumina GAIIx	Phase_I	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1128_1129	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	304					O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	c.903_904insC	CCDS9318.1																																																																																				0.678	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			9	93						9	93	---	---	---	---
MEDAG	84935	broad.mit.edu	37	13	31495729	31495730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:31495729_31495730insC	ENST00000380482.4	+	4	858_859	c.533_534insC	c.(532-537)ttccccfs	p.FP178fs	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588425.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	178					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											AAGAATTTCTTCCCCCCAGGAA	0.356																																						ENST00000380482.4																			0											c.(532-534)tccfs		mesenteric estrogen-dependent adipogenesis																																				SO:0001589	frameshift_variant	84935							g.chr13:31495729_31495730insC	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.539dupC	13.37:g.31495735_31495735dupC	ENSP00000369849:p.Phe178fs		Somatic				TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	p.S178fs	NM_032849.3	NP_116238.2	WXS	Illumina GAIIx	Phase_I					4	858_859	+								Q8IXF1|Q96K26|Q96NC8	Frame_Shift_Ins	INS	ENST00000380482.4	37	c.533_534insC	CCDS9338.1																																																																																				0.356	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		8	357						8	357	---	---	---	---
KL	9365	broad.mit.edu	37	13	33638205	33638206	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:33638205_33638206insT	ENST00000380099.3	+	5	2929_2930	c.2921_2922insT	c.(2920-2925)agttttfs	p.SF974fs	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	974					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTGAGTGCAGTTTTTTTCACA	0.376																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2920-2922)attfs		klotho																																				SO:0001589	frameshift_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638205_33638206insT	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2928dupT	13.37:g.33638212_33638212dupT	ENSP00000369442:p.Ser974fs		Somatic				KL_ENST00000487852.1_3'UTR	p.I974fs	NM_004795.3	NP_004786.2	WXS	Illumina GAIIx	Phase_I	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2929_2930	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	974					Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Frame_Shift_Ins	INS	ENST00000380099.3	37	c.2921_2922insT	CCDS9347.1																																																																																				0.376	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			7	259						7	259	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		19	413						19	413	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:77641916_77641917insG	ENST00000544440.2	-	71	12157_12158	c.12140_12141insC	c.(12139-12141)ccafs	p.P4047fs	MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.P4085fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.P4047fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12253-12255)cgcfs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641916_77641917insG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12141dupC	13.37:g.77641922_77641922dupG	ENSP00000444596:p.Pro4047fs		Somatic				MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs	p.R4085fs	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	12520_12521	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4047						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.12254_12255insC																																																																																					0.436	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	679						8	679	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			10	1038						10	1038	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C	rs570668890	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139									T cell receptor alpha variable 3 (gene/pseudogene)																		GCTGGAAAGGACCCCCCCAATC	0.574																																						ENST00000390425.2																			0																																																			28690							g.chr14:22192097_22192098insC	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192104_22192104dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	138_139	+									RNA	INS	ENST00000390425.2	37																																																																																						0.574	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		7	237						7	237	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.5																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1339-1341)ggtfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs		Somatic				ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs	p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1667_1668	-	all_cancers(95;1.36e-05)		447		A -> P (in dbSNP:rs941719).			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	151						7	151	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		10	165						10	165	---	---	---	---
ADAM21P1	145241	broad.mit.edu	37	14	70713512	70713535	+	RNA	DEL	TGGGAACGACTGATTTGTTTCCGT	TGGGAACGACTGATTTGTTTCCGT	-	rs546315157|rs572613194|rs554391398	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:70713512_70713535delTGGGAACGACTGATTTGTTTCCGT	ENST00000530196.1	-	0	983_1006					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ATGTTGTAGCTGGGAACGACTGATTTGTTTCCGTTGAGAGAAAT	0.362																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713512_70713535delTGGGAACGACTGATTTGTTTCCGT			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713512_70713535delTGGGAACGACTGATTTGTTTCCGT			Somatic						NR_003951.1		WXS	Illumina GAIIx	Phase_I					0	983_1006	-									RNA	DEL	ENST00000530196.1	37																																																																																						0.362	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		8	165						8	165	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:75248518_75248519insC	ENST00000552421.1	+	4	1896_1897	c.1772_1773insC	c.(1771-1776)ctccccfs	p.LP591fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.LP591fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1771-1773)cccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248518_75248519insC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1778dupC	14.37:g.75248524_75248524dupC	ENSP00000447921:p.Leu591fs		Somatic				YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	p.P591fs	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1896_1897	+			392					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.1772_1773insC																																																																																					0.599	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		7	373						7	373	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch; dbSNP:rs121912712).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACTTGACCTCGGGGGGGATAG	0.49																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CD890162|CI941951	SERPINA1	D|I	rs121912712|rs143329723	c.(1156-1161)ccaggtfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844884_94844885insG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1159dupC	14.37:g.94844891_94844891dupG	ENSP00000416066:p.Glu387fs		Somatic				SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs	p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	WXS	Illumina GAIIx	Phase_I	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	7	1730_1731	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	387		E -> K (in Christchurch).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.1158_1159insC	CCDS9925.1																																																																																				0.490	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		8	132						8	132	---	---	---	---
IGHG4	3503	broad.mit.edu	37	14	106091519	106091520	+	RNA	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:106091519_106091520insG	ENST00000390543.2	-	0	373_374							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAACAG	0.619																																						ENST00000390543.2																			0																																																			3503							g.chr14:106091519_106091520insG	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091525_106091525dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	373_374	-									RNA	INS	ENST00000390543.2	37																																																																																						0.619	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		7	367						7	367	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226									immunoglobulin heavy variable 4-39																		CCCAGTAGTAACTACTACTGCTG	0.596																																						ENST00000390619.2																			0																	1153,2423		29,1095,664						-0.6	0.0		dbSNP_134	58	1515,6297		125,1265,2516	no	intergenic				154,2360,3180	A1A1,A1R,RR		19.3932,32.2427,23.4282				2668,8720						28394							g.chr14:106877817_106877819delACT	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877823_106877825delACT			Somatic								WXS	Illumina GAIIx	Phase_I					0	224_226	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.596	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		20	56						20	56	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		7	169						7	169	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13153-13155)gtafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs		Somatic					p.V4385fs	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			71	13240_13241	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	75						7	75	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		7	266						7	266	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1204-1209)ctccccfs		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs		Somatic				ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs	p.LP402fs	NM_001010845.2	NP_001010845.1	WXS	Illumina GAIIx	Phase_I	Q08AH3	ACS2A_HUMAN			10	1320_1321	+			402					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	426						7	426	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs		Somatic				ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		14	447						14	447	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)cccaaafs	p.K3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.51																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10906-10911)ccaaggfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966297_20966298insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10909dupC	16.37:g.20966303_20966303dupG	ENSP00000261383:p.Lys3637fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.R3637fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10907_10908	-			3637			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.10908_10909insC	CCDS10594.1																																																																																				0.510	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	486						9	486	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)ccafs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGTCAGTGGGGGGATGTT	0.46																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8557-8559)cctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976647_20976648insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8559dupC	16.37:g.20976653_20976653dupG	ENSP00000261383:p.Pro2853fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.P2853fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8557_8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.8558_8559insC	CCDS10594.1																																																																																				0.460	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	695						9	695	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2406)caggggfs	p.QG801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.QG801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.51																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2401-2403)cggfs		trinucleotide repeat containing 6A																																				SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802365_24802366insG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2409dupG	16.37:g.24802372_24802372dupG	ENSP00000379144:p.Gln801fs		Somatic				TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs	p.R801fs	NM_014494.2	NP_055309.2	WXS	Illumina GAIIx	Phase_I	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2531_2532	+			801			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	ENST00000395799.3	37	c.2402_2403insG	CCDS10624.2																																																																																				0.510	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	126						11	126	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531243	30531244	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:30531243_30531244insG	ENST00000356798.6	+	30	3474_3475	c.3294_3295insG	c.(3295-3297)gggfs	p.G1099fs	ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.G333fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.G1015fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1099					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGAGCGGCATCGGGGGGCTGCT	0.599																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3292-3297)atggggfs		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001589	frameshift_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531243_30531244insG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300dupG	16.37:g.30531249_30531249dupG	ENSP00000349252:p.Gly1099fs		Somatic				ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.MG332fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.MG1014fs	p.MG1098fs	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			30	3474_3475	+			1098					O43746|Q45H73|Q96HB1|Q9UBC8	Frame_Shift_Ins	INS	ENST00000356798.6	37	c.3294_3295insG	CCDS32433.1																																																																																				0.599	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			9	569						9	569	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)cagfs	p.Q515fs	ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.Q538fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.Q538fs	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1543-1545)gttfs		zinc finger protein 668			,,,	9,4255		0,9,2123					,,,	5.0	0.9			51	6,8248		0,6,4121	no	frameshift,frameshift,frameshift,frameshift	ZNF668	NM_024706.4,NM_001172670.1,NM_001172669.1,NM_001172668.1	,,,	0,15,6244	A1A1,A1R,RR		0.0727,0.2111,0.1198	,,,	,,,		15,12503				SO:0001589	frameshift_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072705_31072706insG		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1544dupC	16.37:g.31072712_31072712dupG	ENSP00000440149:p.Gln515fs		Somatic				ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs	p.V515fs	NM_001172668.1	NP_001166139.1	WXS	Illumina GAIIx	Phase_I	Q96K58	ZN668_HUMAN			3	2327_2328	-			515					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Frame_Shift_Ins	INS	ENST00000538906.1	37	c.1543_1544insC	CCDS10701.1																																																																																				0.663	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		11	222						11	222	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55857568	55857569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:55857568_55857569insC	ENST00000361503.4	-	4	559_560	c.429_430insG	c.(427-432)gggctgfs	p.L144fs	CES1_ENST00000360526.3_Frame_Shift_Ins_p.L145fs|CES1_ENST00000422046.2_Frame_Shift_Ins_p.L144fs|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	144					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCCACCATCAGCCCCCCTCCGT	0.559																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(427-432)ggtgatfs		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)																																			SO:0001589	frameshift_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55857568_55857569insC	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.430dupG	16.37:g.55857574_55857574dupC	ENSP00000355193:p.Leu144fs		Somatic				CES1_ENST00000361503.4_Frame_Shift_Ins_p.D144fs|CES1_ENST00000360526.3_Frame_Shift_Ins_p.D145fs|CES1_ENST00000566555.1_5'UTR	p.D144fs			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	710_711	-			144					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Frame_Shift_Ins	INS	ENST00000361503.4	37	c.429_430insG	CCDS45488.1																																																																																				0.559	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	452						7	452	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		30	1477						30	1477	---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57600565	57600566	+	Frame_Shift_Ins	INS	-	-	G	rs201845314		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:57600565_57600566insG	ENST00000340339.4	+	7	1124_1125	c.601_602insG	c.(601-603)tggfs	p.W201fs	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Frame_Shift_Ins_p.W201fs	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	201	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTGG	0.604																																						ENST00000340339.4																			1	Insertion - Frameshift(1)	p.W204fs*4(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(601-603)gggfs		G protein-coupled receptor 114																																				SO:0001589	frameshift_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57600565_57600566insG	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.608dupG	16.37:g.57600572_57600572dupG	ENSP00000342981:p.Trp201fs		Somatic				GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Frame_Shift_Ins_p.G201fs	p.G201fs	NM_153837.1	NP_722579.1	WXS	Illumina GAIIx	Phase_I	Q8IZF4	GP114_HUMAN			7	1124_1125	+			201			GPS.		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Frame_Shift_Ins	INS	ENST00000340339.4	37	c.601_602insG	CCDS10785.1																																																																																				0.604	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		9	125						9	125	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		Somatic				C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		11	432						11	432	---	---	---	---
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)gggcagfs	p.Q215fs	KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(640-645)ggagctfs		KIAA0895-like																																				SO:0001589	frameshift_variant	653319							g.chr16:67213789_67213790insC	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.643dupG	16.37:g.67213795_67213795dupC	ENSP00000290881:p.Gln215fs		Somatic				KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563831.2_Intron	p.A215fs			WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			4	1568_1569	-			215					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Frame_Shift_Ins	INS	ENST00000290881.7	37	c.642_643insG	CCDS42177.1																																																																																				0.569	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		10	298						10	298	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)cggfs	p.R408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGTG	0.559																																						ENST00000299798.11																			1	Substitution - Missense(1)	p.R408W(1)	kidney(1)	breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1222-1224)gggfs		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001589	frameshift_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290903_67290904insG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1228dupG	16.37:g.67290909_67290909dupG	ENSP00000299798:p.Arg408fs		Somatic					p.G408fs	NM_004594.2	NP_004585.1	WXS	Illumina GAIIx	Phase_I	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1287_1288	+		Ovarian(137;0.0563)	408					A5PKY7|Q9Y626	Frame_Shift_Ins	INS	ENST00000299798.11	37	c.1222_1223insG	CCDS42178.1																																																																																				0.559	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	250						7	250	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2299-2304)cctggtfs		potassium channel tetramerization domain containing 19				13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657_67325658insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs		Somatic					p.G768fs	NM_001100915.1	NP_001094385.1	WXS	Illumina GAIIx	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2356_2357	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.2301_2302insC	CCDS42179.1																																																																																				0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		13	227						13	227	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822585	72822586	+	Frame_Shift_Ins	INS	-	-	G	rs141461385		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:72822585_72822586insG	ENST00000268489.5	-	10	10261_10262	c.9589_9590insC	c.(9589-9591)cagfs	p.Q3197fs	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.Q2283fs|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3197	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9589-9591)gcafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822585_72822586insG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9590dupC	16.37:g.72822592_72822592dupG	ENSP00000268489:p.Gln3197fs		Somatic				ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.A2283fs	p.A3197fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	10261_10262	-		Ovarian(137;0.13)	3197			Poly-Gln.		D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.9589_9590insC	CCDS10908.1																																																																																				0.658	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	274						8	274	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	10	1246						10	1246	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74660348	74660349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:74660348_74660349insA	ENST00000361070.4	-	12	2170_2171	c.2073_2074insT	c.(2071-2076)tttggafs	p.G692fs	RFWD3_ENST00000571750.1_Frame_Shift_Ins_p.G692fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	692					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GTAGGTCCTCCAAAAAATGTAT	0.45																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(2071-2076)ttgaggfs		ring finger and WD repeat domain 3																																				SO:0001589	frameshift_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74660348_74660349insA	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2074dupT	16.37:g.74660354_74660354dupA	ENSP00000354361:p.Gly692fs		Somatic				RFWD3_ENST00000571750.1_Frame_Shift_Ins_p.LR691fs	p.LR691fs	NM_018124.3	NP_060594.3	WXS	Illumina GAIIx	Phase_I	Q6PCD5	RFWD3_HUMAN			12	2170_2171	-			691					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Frame_Shift_Ins	INS	ENST00000361070.4	37	c.2073_2074insT	CCDS32486.1																																																																																				0.450	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		8	630						8	630	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs		Somatic					p.G361fs	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		12	1079						12	1079	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3716453	3716454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:3716453_3716454insC	ENST00000389005.4	-	13	1774_1775	c.1747_1748insG	c.(1747-1749)gctfs	p.A583fs	C17orf85_ENST00000158149.3_Frame_Shift_Ins_p.A303fs	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	583							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A303fs*2(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CTTAATCAGAGCCCCCCATGCC	0.505																																						ENST00000158149.3																			1	Deletion - Frameshift(1)	p.A303fs*2(1)	large_intestine(1)	endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(907-909)tctfs		chromosome 17 open reading frame 85																																				SO:0001589	frameshift_variant	55421						nucleotide binding	g.chr17:3716453_3716454insC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1748dupG	17.37:g.3716459_3716459dupC	ENSP00000373657:p.Ala583fs		Somatic				C17orf85_ENST00000389005.4_Frame_Shift_Ins_p.S583fs	p.S303fs			WXS	Illumina GAIIx	Phase_I	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1802_1803	-			583					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Frame_Shift_Ins	INS	ENST00000389005.4	37	c.907_908insG	CCDS45578.1																																																																																				0.505	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	521						7	521	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)accfs	p.T301fs	WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.T185fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.T301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(901-903)cccfs		WSC domain containing 1																																				SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6012978_6012979insC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.907dupC	17.37:g.6012984_6012984dupC	ENSP00000460825:p.Thr301fs		Somatic				WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs	p.P301fs			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			6	1291_1292	+			301			WSC 2.		A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Ins	INS	ENST00000574946.1	37	c.901_902insC	CCDS32538.1																																																																																				0.564	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		23	1473						23	1473	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6904973	6904974	+	Frame_Shift_Ins	INS	-	-	C	rs138651024	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:6904973_6904974insC	ENST00000251535.6	+	8	1057_1058	c.1004_1005insC	c.(1003-1008)gaccccfs	p.DP335fs	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	335	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGCCCTCAGACCCCCCACTTG	0.515																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1003-1005)gccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6904973_6904974insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1010dupC	17.37:g.6904979_6904979dupC	ENSP00000251535:p.Asp335fs		Somatic				AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000574377.1_Intron	p.A335fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			8	1057_1058	+			335			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.1004_1005insC	CCDS11084.1																																																																																				0.515	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	897						7	897	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs		Somatic				PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs	p.A242fs			WXS	Illumina GAIIx	Phase_I	Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			24	528						24	528	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs		Somatic					p.GP328fs	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		11	322						11	322	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs		Somatic				CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		42	571						42	571	---	---	---	---
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:21731033_21731034insC	ENST00000578713.1	+	1	339_340	c.335_336insC	c.(334-339)atccccfs	p.IP112fs	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Frame_Shift_Ins_p.IP112fs|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.54																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(334-336)accfs																																						SO:0001589	frameshift_variant	23666							g.chr17:21731033_21731034insC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.342dupC	17.37:g.21731040_21731040dupC	ENSP00000464265:p.Ile112fs		Somatic				UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.T112fs			WXS	Illumina GAIIx	Phase_I					2	732_733	+									Frame_Shift_Ins	INS	ENST00000578713.1	37	c.335_336insC																																																																																					0.540	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			9	166						9	166	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)ccafs	p.P882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.51																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2644-2646)cagfs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233908_27233909insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2646dupC	17.37:g.27233915_27233915dupG	ENSP00000329933:p.Pro882fs		Somatic				PHF12_ENST00000577226.1_3'UTR	p.Q882fs	NM_001033561.1	NP_001028733.1	WXS	Illumina GAIIx	Phase_I	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		14	3455_3456	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		882						Frame_Shift_Ins	INS	ENST00000332830.4	37	c.2645_2646insC	CCDS32598.1																																																																																				0.510	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		7	271						7	271	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cgafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	p.R919fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		40	997						40	997	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs587781807		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)accfs	p.T676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.T676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.46			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.P678fs*10(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2026-2028)cccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553477_29553478insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2033dupC	17.37:g.29553484_29553484dupC	ENSP00000351015:p.Thr676fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	p.P676fs	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2409_2410	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	676					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.2026_2027insC	CCDS42292.1																																																																																				0.460	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		9	176						9	176	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29683557	29683558	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:29683557_29683558insC	ENST00000358273.4	+	52	8078_8079	c.7695_7696insC	c.(7696-7698)cccfs	p.P2566fs	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Ins_p.P359fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.P2545fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2566					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGATCACAACACCCCCCAAAAT	0.366			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7693-7698)acccccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683557_29683558insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7701dupC	17.37:g.29683563_29683563dupC	ENSP00000351015:p.Pro2566fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000444181.2_Frame_Shift_Ins_p.TP358fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.TP2544fs	p.TP2565fs	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	52	8078_8079	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2565					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.7695_7696insC	CCDS42292.1																																																																																				0.366	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		11	232						11	232	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		11	373						11	373	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs		Somatic				ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		10	1042						10	1042	---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)gggtacfs	p.Y24fs	PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.Y24fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(67-72)ggacttfs		polycomb group ring finger 2																																				SO:0001589	frameshift_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896586_36896587insC	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.70dupG	17.37:g.36896592_36896592dupC	ENSP00000461961:p.Tyr24fs		Somatic				PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron	p.L24fs			WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			4	770_771	-	Breast(7;9.07e-22)		24					A6NGD8	Frame_Shift_Ins	INS	ENST00000580830.1	37	c.69_70insG	CCDS32638.1																																																																																				0.629	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		7	475						7	475	---	---	---	---
MIEN1	84299	broad.mit.edu	37	17	37885932	37885935	+	Intron	DEL	ACTC	ACTC	-			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:37885932_37885935delACTC	ENST00000394231.3	-	3	556				ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_Frame_Shift_Del_p.VS89fs|MIEN1_ENST00000474210.1_Intron			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1						apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										CGCTGTAAATACTCACATCTTTCT	0.485																																						ENST00000577810.1																			0											c.(265-270)gtfs		migration and invasion enhancer 1				24,4240		12,0,2120						4.6	0.8			193	33,8221		16,1,4110	no	intron	MIEN1	NM_032339.3		28,1,6230	A1A1,A1R,RR		0.3998,0.5629,0.4553				57,12461				SO:0001627	intron_variant	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37885932_37885935delACTC	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.264+2GAGT>-	17.37:g.37885932_37885935delACTC			Somatic				MIEN1_ENST00000474210.1_Intron|ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000394231.3_Intron	p.VS89fs	NM_032339.3	NP_115715.3	WXS	Illumina GAIIx	Phase_I	Q9BRT3	CQ037_HUMAN			3	281_284	-			89						Frame_Shift_Del	DEL	ENST00000394231.3	37	c.267_270delGAGT	CCDS11344.1																																																																																				0.485	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339		23	842						23	842	---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38552660	38552661	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:38552660_38552661insC	ENST00000423485.1	-	28	3752_3753	c.3594_3595insG	c.(3592-3597)gggaagfs	p.K1199fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1199					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCCTTGGCCTTCCCCCCTTTCC	0.426																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(3592-3597)ggaggcfs		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001589	frameshift_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38552660_38552661insC		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3595dupG	17.37:g.38552666_38552666dupC	ENSP00000411532:p.Lys1199fs		Somatic					p.G1199fs	NM_001067.3	NP_001058.2	WXS	Illumina GAIIx	Phase_I	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		28	3752_3753	-		Breast(137;0.00328)	1199					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Ins	INS	ENST00000423485.1	37	c.3594_3595insG	CCDS45672.1																																																																																				0.426	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			7	345						7	345	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs		Somatic				KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		24	667						24	667	---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40764471	40764472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:40764471_40764472insG	ENST00000251413.3	+	5	488_489	c.426_427insG	c.(427-429)gggfs	p.G143fs	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	143					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTCCATTGCTGGGGGGACAGG	0.505																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(424-429)gcggggfs		tubulin, gamma 1																																				SO:0001589	frameshift_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40764471_40764472insG	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.432dupG	17.37:g.40764477_40764477dupG	ENSP00000251413:p.Gly143fs		Somatic					p.AG142fs	NM_001070.4	NP_001061.2	WXS	Illumina GAIIx	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	488_489	+		Breast(137;0.00116)	142					Q53X79|Q9BW59	Frame_Shift_Ins	INS	ENST00000251413.3	37	c.426_427insG	CCDS11433.1																																																																																				0.505	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		7	718						7	718	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)cccgacfs	p.D729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.D729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619																																						ENST00000007414.3																			1	Insertion - Frameshift(1)	p.D729fs*3(1)	lung(1)	autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2182-2187)ccaccafs		oxysterol binding protein-like 7																																				SO:0001589	frameshift_variant	114881				lipid transport		lipid binding	g.chr17:45886342_45886343insG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2185dupC	17.37:g.45886348_45886348dupG	ENSP00000007414:p.Asp729fs		Somatic				OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	p.P729fs	NM_145798.2	NP_665741.1	WXS	Illumina GAIIx	Phase_I	Q9BZF2	OSBL7_HUMAN			21	2375_2376	-			729					D3DTT6|Q6PIV6	Frame_Shift_Ins	INS	ENST00000007414.3	37	c.2184_2185insC	CCDS11515.1																																																																																				0.619	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		9	550						9	550	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs		Somatic				MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	p.P82fs			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	325						7	325	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-708)agccccfs	p.SP235fs	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	235					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCACTGAAAGCCCCCCAACCC	0.609																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(703-705)accfs		Sp2 transcription factor																																				SO:0001589	frameshift_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994141_45994142insC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.710dupC	17.37:g.45994147_45994147dupC	ENSP00000365931:p.Ser235fs		Somatic				AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	p.T235fs	NM_003110.5	NP_003101.3	WXS	Illumina GAIIx	Phase_I	Q02086	SP2_HUMAN			3	841_842	+			235					A6NK74	Frame_Shift_Ins	INS	ENST00000376741.4	37	c.704_705insC	CCDS11521.2																																																																																				0.609	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		8	605						8	605	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		18	1244						18	1244	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG			Somatic				SCN4A_ENST00000435607.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	8	146						8	146	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs		Somatic				AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		9	80						9	80	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66270149	66270150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:66270149_66270150insC	ENST00000327268.4	-	4	458_459	c.294_295insG	c.(292-297)gggctafs	p.L99fs	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.L99fs	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	99					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(292-297)ggtactfs		solute carrier family 16, member 6	Pyruvic acid(DB00119)		,,	8,4256		0,8,2124					,,	-0.3	0.2			77	7,8247		0,7,4120	no	intron,frameshift,frameshift	SLC16A6,ARSG	NM_014960.3,NM_004694.4,NM_001174166.1	,,	0,15,6244	A1A1,A1R,RR		0.0848,0.1876,0.1198	,,	,,		15,12503				SO:0001589	frameshift_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66270149_66270150insC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.295dupG	17.37:g.66270156_66270156dupC	ENSP00000319991:p.Leu99fs		Somatic				ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.T99fs	p.T99fs	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	458_459	-	all_cancers(12;1.24e-09)		99					Q6P1X3	Frame_Shift_Ins	INS	ENST00000327268.4	37	c.294_295insG	CCDS11675.1																																																																																				0.535	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		9	140						9	140	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		22	1428						22	1428	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs		Somatic				FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR	p.D90fs	NM_001098832.1	NP_001092302.1	WXS	Illumina GAIIx	Phase_I	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		9	464						9	464	---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3028803	3028804	+	Splice_Site	INS	-	-	G	rs202223987	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:3028803_3028804insG	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000586422.1_5'Flank|TLE2_ENST00000590536.1_Splice_Site	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2						negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.e2-2		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)																																				SO:0001630	splice_region_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3028803_3028804insG	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.25-2->C	19.37:g.3028811_3028811dupG			Somatic				TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000590536.1_Splice_Site		NM_003260.4	NP_003251.2	WXS	Illumina GAIIx	Phase_I	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	287	-								B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Splice_Site	INS	ENST00000262953.6	37		CCDS45911.1																																																																																				0.624	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	Intron	7	50						7	50	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)gggctgfs	p.L602fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.L602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.L602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1801-1806)ggtggcfs		fibrillin 3																																				SO:0001589	frameshift_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196624_8196625insC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1804dupG	19.37:g.8196631_8196631dupC	ENSP00000470498:p.Leu602fs		Somatic				FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs	p.G602fs			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			15	2217_2218	-			602			EGF-like 7; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	ENST00000600128.1	37	c.1803_1804insG	CCDS12196.1																																																																																				0.678	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	80						9	80	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	423						16	423	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)ggcfs	p.G354fs	ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G314fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1060-1062)gcgfs		angiopoietin-like 6																																				SO:0001589	frameshift_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204185_10204186insC	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1062dupG	19.37:g.10204192_10204192dupC	ENSP00000253109:p.Gly354fs		Somatic				ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs	p.A354fs	NM_031917.2	NP_114123.2	WXS	Illumina GAIIx	Phase_I	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1299_1300	-			354			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Frame_Shift_Ins	INS	ENST00000253109.4	37	c.1061_1062insG	CCDS12224.1																																																																																				0.639	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		10	73						10	73	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		14	267						14	267	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T	rs375738139		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:12155708_12155709insT	ENST00000547628.1	-	4	644_645	c.507_508insA	c.(505-510)aaacccfs	p.P170fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P217fs	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-651)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155708_12155709insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.508dupA	19.37:g.12155715_12155715dupT	ENSP00000447931:p.Pro170fs		Somatic				CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.NL216fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	647_648	-			169						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.648_649insA	CCDS45984.2																																																																																				0.411	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		13	604						13	604	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275653	16275654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:16275653_16275654insC	ENST00000269878.4	-	5	466_467	c.417_418insG	c.(415-420)gggctgfs	p.L140fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.L91fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	140							calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGCG	0.564																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-420)ggtgagfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275653_16275654insC	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.418dupG	19.37:g.16275661_16275661dupC	ENSP00000269878:p.Leu140fs		Somatic				CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs|CIB3_ENST00000541493.1_5'UTR	p.E140fs	NM_054113.2	NP_473454.1	WXS	Illumina GAIIx	Phase_I	Q96Q77	CIB3_HUMAN			5	466_467	-			140					E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.417_418insG	CCDS12340.1																																																																																				0.564	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		17	278						17	278	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	471						14	471	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs		Somatic				FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		9	488						9	488	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs		Somatic				CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	p.P599fs	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		7	310						7	310	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		11	822						11	822	---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44273714	44273715	+	Splice_Site	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:44273714_44273715insG	ENST00000262888.3	-	6	1326		c.e6-2			NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4						calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CTCCTTCATCTGGGGGTGGGTG	0.604																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.e6-2		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)																																			SO:0001630	splice_region_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273714_44273715insG	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.931-2->C	19.37:g.44273719_44273719dupG			Somatic						NM_002250.2	NP_002241.1	WXS	Illumina GAIIx	Phase_I	O15554	KCNN4_HUMAN			6	1326	-		Prostate(69;0.0352)						Q53XR4	Splice_Site	INS	ENST00000262888.3	37		CCDS12630.1																																																																																				0.604	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250	Intron	8	696						8	696	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs		Somatic				CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron	p.P93fs			WXS	Illumina GAIIx	Phase_I	Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		10	215						10	215	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:49589711_49589712insC	ENST00000598441.1	+	2	264_265	c.40_41insC	c.(40-42)gccfs	p.A14fs	SNRNP70_ENST00000221448.5_Frame_Shift_Ins_p.A14fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.54																																						ENST00000221448.5																			1	Insertion - Frameshift(1)	p.R16fs*2(1)	skin(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(40-42)cccfs		small nuclear ribonucleoprotein 70kDa (U1)																																				SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49589711_49589712insC		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.46dupC	19.37:g.49589717_49589717dupC	ENSP00000472998:p.Ala14fs		Somatic				SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	p.P14fs	NM_003089.4	NP_003080.2	WXS	Illumina GAIIx	Phase_I	P08621	RU17_HUMAN			2	236_237	+			14					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Ins	INS	ENST00000598441.1	37	c.40_41insC	CCDS12756.1																																																																																				0.540	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		10	529						10	529	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49657097	49657098	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:49657097_49657098insG	ENST00000252825.4	-	1	1583_1584	c.1397_1398insC	c.(1396-1398)ccafs	p.P466fs	HRC_ENST00000595625.1_Frame_Shift_Ins_p.P466fs	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	466					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTGTGTGTCCTGGGGGGTGATG	0.55																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1396-1398)cggfs		histidine rich calcium binding protein																																				SO:0001589	frameshift_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657097_49657098insG		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1398dupC	19.37:g.49657103_49657103dupG	ENSP00000252825:p.Pro466fs		Somatic				HRC_ENST00000595625.1_Frame_Shift_Ins_p.R466fs	p.R466fs	NM_002152.2	NP_002143.1	WXS	Illumina GAIIx	Phase_I	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1583_1584	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	466					Q504Y6	Frame_Shift_Ins	INS	ENST00000252825.4	37	c.1397_1398insC	CCDS12759.1																																																																																				0.550	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		7	510						7	510	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		15	474						15	474	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs		Somatic					p.P353fs	NM_001506.1	NP_001497.1	WXS	Illumina GAIIx	Phase_I	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			7	230						7	230	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		20	345						20	345	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs		Somatic				CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	p.F459fs	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		9	938						9	938	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs		Somatic				CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs	p.P242fs			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	126						8	126	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		8	528						8	528	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs		Somatic				UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	p.GP572fs	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		11	214						11	214	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	162						9	162	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30789951	30789952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:30789951_30789952insG	ENST00000246229.4	-	2	294_295	c.30_31insC	c.(28-33)ccctggfs	p.W11fs		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	11					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACGC	0.559																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(28-33)ccggatfs		pleiomorphic adenoma gene-like 2																																				SO:0001589	frameshift_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789951_30789952insG		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.31dupC	20.37:g.30789958_30789958dupG	ENSP00000246229:p.Trp11fs		Somatic					p.D11fs	NM_002657.3	NP_002648.1	WXS	Illumina GAIIx	Phase_I	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	294_295	-			11					A8K8T5|E1P5M3|Q92584	Frame_Shift_Ins	INS	ENST00000246229.4	37	c.30_31insC	CCDS13197.1																																																																																				0.559	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		10	285						10	285	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	257						10	257	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977298	39977299	+	Frame_Shift_Ins	INS	-	-	G	rs546459459		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:39977298_39977299insG	ENST00000373257.3	+	4	419_420	c.328_329insG	c.(328-330)tggfs	p.W110fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	110					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCCATCCCTTGGGGGGGTCTG	0.663																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(328-330)gggfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977298_39977299insG	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.335dupG	20.37:g.39977305_39977305dupG	ENSP00000362354:p.Trp110fs		Somatic					p.G110fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			4	419_420	+		Myeloproliferative disorder(115;0.000739)	110					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.328_329insG	CCDS33469.1																																																																																				0.663	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		8	126						8	126	---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42344628	42344629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:42344628_42344629insG	ENST00000217026.4	+	14	2131_2132	c.2004_2005insG	c.(2005-2007)gggfs	p.G669fs	MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.G645fs	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	669					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G669W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGTGGCCTGCGGGGGGACCAG	0.624																																						ENST00000217026.4																			1	Substitution - Missense(1)	p.G669W(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(2002-2007)tgggggfs		v-myb avian myeloblastosis viral oncogene homolog-like 2																																				SO:0001589	frameshift_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42344628_42344629insG		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2010dupG	20.37:g.42344634_42344634dupG	ENSP00000217026:p.Gly669fs		Somatic				MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.WG644fs	p.WG668fs	NM_002466.2	NP_002457.1	WXS	Illumina GAIIx	Phase_I	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	2131_2132	+		Myeloproliferative disorder(115;0.00452)	668					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Frame_Shift_Ins	INS	ENST00000217026.4	37	c.2004_2005insG	CCDS13322.1																																																																																				0.624	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		10	507						10	507	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs		Somatic					p.F103fs	NM_003064.2	NP_003055.1	WXS	Illumina GAIIx	Phase_I	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			24	512						24	512	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs		Somatic				SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	455						7	455	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		15	264						15	264	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				AC002472.13_ENST00000543388.1_5'Flank|P2RX6P_ENST00000439119.1_RNA|AC002472.11_ENST00000450652.1_RNA																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered		Somatic						NR_002829.1		WXS	Illumina GAIIx	Phase_I					0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				11	171						11	171	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs377142963|rs7410785	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1				BMS1 pseudogene 20																		ATACAGGTTTTCCCCCCCCACC	0.406																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661173_22661174insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661181_22661181dupC			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	265_266	+									RNA	INS	ENST00000426066.1	37																																																																																						0.406	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			13	105						13	105	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		13	207						13	207	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs		Somatic					p.P432fs	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		7	224						7	224	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		8	564						8	564	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:73963268_73963269insC	ENST00000055682.6	-	3	1734_1735	c.1123_1124insG	c.(1123-1125)gagfs	p.E375fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1123-1125)ggafs		KIAA2022																																				SO:0001589	frameshift_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963268_73963269insC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1124dupG	X.37:g.73963274_73963274dupC	ENSP00000055682:p.Glu375fs		Somatic				KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs	p.G375fs			WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	1774_1775	-			375					A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Ins	INS	ENST00000055682.6	37	c.1123_1124insG	CCDS35337.1																																																																																				0.475	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		11	612						11	612	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs281874665|rs281874666|rs104886321|rs104886113		TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:107834821_107834822insC	ENST00000361603.2	+	21	1614_1615	c.1370_1371insC	c.(1369-1374)ggccccfs	p.GP457fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.GP457fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CD961911	COL4A5	D		c.(1369-1371)gccfs		collagen, type IV, alpha 5																																				SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834821_107834822insC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1376dupC	X.37:g.107834827_107834827dupC	ENSP00000354505:p.Gly457fs		Somatic				COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	p.A457fs	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			21	1614_1615	+			457		Missing (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	ENST00000361603.2	37	c.1370_1371insC	CCDS14543.1																																																																																				0.406	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			11	615						11	615	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514784	123514785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:123514784_123514785insC	ENST00000371130.3	-	31	7842_7843	c.7779_7780insG	c.(7777-7782)gggaggfs	p.R2594fs	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Frame_Shift_Ins_p.R2601fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2594					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2596fs*15(1)									AGAATCCGCCTCCCCCCAGTGT	0.5																																						ENST00000422452.2																			1	Deletion - Frameshift(1)	p.R2596fs*15(1)	ovary(1)								c.(7798-7803)ggggcgfs		teneurin transmembrane protein 1																																				SO:0001589	frameshift_variant	10178							g.chrX:123514784_123514785insC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7780dupG	X.37:g.123514790_123514790dupC	ENSP00000360171:p.Arg2594fs		Somatic				STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Frame_Shift_Ins_p.A2594fs	p.A2601fs	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					32	7863_7864	-								B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	c.7800_7801insG	CCDS14609.1																																																																																				0.500	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		7	293						7	293	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)caafs	p.Q119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.53																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(355-357)aaafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700357_133700358insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.356dupC	X.37:g.133700363_133700363dupG	ENSP00000352173:p.Gln119fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.K119fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	640_641	-	Acute lymphoblastic leukemia(192;0.000127)		119						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.355_356insC	CCDS14642.1																																																																																				0.530	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		10	269						10	269	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1021-1023)aaafs	p.K341fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.K278fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.K136fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.K136fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.K341fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	341					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGAA	0.386																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(1018-1023)ataaaafs		G protein-coupled receptor 112																																				SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426885_135426886insA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1027dupA	X.37:g.135426892_135426892dupA	ENSP00000377699:p.Lys341fs		Somatic				GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs	p.IK340fs	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	1311_1312	+	Acute lymphoblastic leukemia(192;0.000127)		340					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	ENST00000394143.1	37	c.1020_1021insA	CCDS35409.1																																																																																				0.386	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	757						8	757	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)cggfs	p.R2570fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.R2368fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.R2365fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.53																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.R2570L(1)	lung(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7708-7710)gggfs		G protein-coupled receptor 112																																				SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455155_135455156insG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7714dupG	X.37:g.135455161_135455161dupG	ENSP00000377699:p.Arg2570fs		Somatic				GPR112_ENST00000412101.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.G2570fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.G2368fs	p.G2570fs	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			15	7999_8000	+	Acute lymphoblastic leukemia(192;0.000127)		2570					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	ENST00000394143.1	37	c.7708_7709insG	CCDS35409.1																																																																																				0.530	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			21	1627						21	1627	---	---	---	---
FGF13	2258	broad.mit.edu	37	X	137939822	137939823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:137939822_137939823insG	ENST00000370603.3	-	2	67_68	c.68_69insC	c.(67-69)cctfs	p.P23fs	FGF13_ENST00000441825.2_5'UTR|FGF13_ENST00000541469.1_Intron			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGTC	0.431																																						ENST00000370603.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(67-69)cggfs		fibroblast growth factor 13																																				SO:0001589	frameshift_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939822_137939823insG	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000370603.3:c.69dupC	X.37:g.137939829_137939829dupG	ENSP00000359635:p.Pro23fs		Somatic				FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_5'UTR	p.R23fs			WXS	Illumina GAIIx	Phase_I	Q92913	FGF13_HUMAN			2	67_68	-	Acute lymphoblastic leukemia(192;0.000127)		0					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Frame_Shift_Ins	INS	ENST00000370603.3	37	c.68_69insC	CCDS55513.1																																																																																				0.431	FGF13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_004114		8	144						8	144	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	153994193	153994193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3453-01A-01W-0886-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d57003b-ee54-45d9-b00b-fdb007421d93	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:153994193delG	ENST00000369550.5	+	4	393	c.183delG	c.(181-183)aagfs	p.K61fs	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	61					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTGATAAGCTGAATGTAA	0.413									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(181-183)aafs		dyskeratosis congenita 1, dyskerin							188.0	156.0	167.0					X																	153994193		2203	4300	6503	SO:0001589	frameshift_variant	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994193delG	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.183delG	X.37:g.153994193delG	ENSP00000358563:p.Lys61fs		Somatic					p.K61fs	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	WXS	Illumina GAIIx	Phase_I	O60832	DKC1_HUMAN			4	393	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		61					F5BSB3|O43845|Q96G67|Q9Y505	Frame_Shift_Del	DEL	ENST00000369550.5	37	c.183delG	CCDS14761.1																																																																																				0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		9	194						9	194	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234743195	234743197	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:234743195_234743197delTCC	ENST00000366609.3	-	2	1480_1482	c.1450_1452delGGA	c.(1450-1452)ggadel	p.G484del	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.G468del	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTGGCTCCAGTCCTCCTGTGTTG	0.645																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1450-1452)del		interferon regulatory factor 2 binding protein 2																																				SO:0001651	inframe_deletion	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743195_234743197delTCC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1450_1452delGGA	1.37:g.234743198_234743200delTCC	ENSP00000355568:p.Gly484del		Somatic				IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.G468del	p.G484del	NM_182972.2	NP_892017.2	WXS	Illumina GAIIx	Phase_I	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1480_1482	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	484					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	37	c.1450_1452delGGA	CCDS1602.1																																																																																				0.645	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		9	166						9	166	---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90667241	90667243	+	In_Frame_Del	DEL	ATC	ATC	-	rs201163117		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:90667241_90667243delATC	ENST00000265138.3	-	8	1485_1487	c.1219_1221delGAT	c.(1219-1221)gatdel	p.D407del		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	407					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		AGGATGGTCTATCATCTGCTGAC	0.414																																						ENST00000265138.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(1219-1221)del		arrestin domain containing 3																																				SO:0001651	inframe_deletion	57561				signal transduction	cytoplasm	protein binding	g.chr5:90667241_90667243delATC	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1219_1221delGAT	5.37:g.90667244_90667246delATC	ENSP00000265138:p.Asp407del		Somatic					p.D407del	NM_020801.2	NP_065852.1	WXS	Illumina GAIIx	Phase_I	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	8	1485_1487	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	407					A8K6T8|Q9P2H1	In_Frame_Del	DEL	ENST00000265138.3	37	c.1219_1221delGAT	CCDS34202.1																																																																																				0.414	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		10	89						10	89	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGAAGGCTACCTCCTGTAAGAA	0.356																																						ENST00000411500.1																			0																																																			3128							g.chr6:32521843_32521844delCT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521843_32521844delCT			Somatic						NR_001298.1		WXS	Illumina GAIIx	Phase_I					0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.356	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	5						4	5	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84569562	84569562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:84569562delG	ENST00000369681.5	+	1	201	c.61delG	c.(61-63)gggfs	p.G22fs	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	22					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TGTCGCCTCCGGGGGGCGTAG	0.677											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(61-63)ggfs		cytochrome b5 reductase 4							22.0	26.0	24.0					6																	84569562		2203	4299	6502	SO:0001589	frameshift_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84569562delG	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.61delG	6.37:g.84569562delG	ENSP00000358695:p.Gly22fs		Somatic	OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1230	CYB5R4_ENST00000369679.4_5'UTR	p.G22fs	NM_016230.3	NP_057314.2	WXS	Illumina GAIIx	Phase_I	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	1	201	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	22					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Frame_Shift_Del	DEL	ENST00000369681.5	37	c.61delG	CCDS5000.2																																																																																				0.677	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		16	24						16	24	---	---	---	---
DAOA-AS1	282706	broad.mit.edu	37	13	106148111	106148114	+	RNA	DEL	CTTC	CTTC	-	rs369531181|rs150872534		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr13:106148111_106148114delCTTC	ENST00000448407.1	-	0	100					NR_040247.1				DAOA antisense RNA 1																		GGATCTTTCTcttccttccttcct	0.353																																						ENST00000448407.1																			0																																																			282706							g.chr13:106148111_106148114delCTTC	AY138548		13q33.2	2012-10-12	2012-08-15	2010-11-25	ENSG00000232307	ENSG00000232307		"""Long non-coding RNAs"""	30243	non-coding RNA	RNA, long non-coding	"""G30 transcript"""	607415	"""DAOA antisense RNA (non-protein coding)"", ""DAOA antisense RNA 1 (non-protein coding)"""	DAOAAS, DAOA-AS		12364586, 12647258	Standard	NR_040247		Approved	G30	uc021rmh.1		OTTHUMG00000041332		13.37:g.106148119_106148122delCTTC			Somatic						NR_040247.1		WXS	Illumina GAIIx	Phase_I					0	100	-									RNA	DEL	ENST00000448407.1	37																																																																																						0.353	DAOA-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000099035.1			4	9						4	9	---	---	---	---
MIEN1	84299	broad.mit.edu	37	17	37885932	37885935	+	Intron	DEL	ACTC	ACTC	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:37885932_37885935delACTC	ENST00000394231.3	-	3	556				ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_Frame_Shift_Del_p.VS89fs|MIEN1_ENST00000474210.1_Intron			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1						apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										CGCTGTAAATACTCACATCTTTCT	0.485																																						ENST00000577810.1																			0											c.(265-270)gtfs		migration and invasion enhancer 1				24,4240		12,0,2120						4.6	0.8			193	33,8221		16,1,4110	no	intron	MIEN1	NM_032339.3		28,1,6230	A1A1,A1R,RR		0.3998,0.5629,0.4553				57,12461				SO:0001627	intron_variant	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37885932_37885935delACTC	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.264+2GAGT>-	17.37:g.37885932_37885935delACTC			Somatic				MIEN1_ENST00000474210.1_Intron|ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000394231.3_Intron	p.VS89fs	NM_032339.3	NP_115715.3	WXS	Illumina GAIIx	Phase_I	Q9BRT3	CQ037_HUMAN			3	281_284	-			89						Frame_Shift_Del	DEL	ENST00000394231.3	37	c.267_270delGAGT	CCDS11344.1																																																																																				0.485	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339		22	562						22	562	---	---	---	---
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs386797200|rs11403368|rs71220402	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14				LINC00854_ENST00000600764.1_RNA|LINC00854_ENST00000608223.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		accctgatctatcatcgggagg	0.55																																						ENST00000433702.2																			0																																																			100874261							g.chr17:41381913_41381914insT			17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41381914_41381914dupT			Somatic						NR_047479.1		WXS	Illumina GAIIx	Phase_I					0	14	-									RNA	INS	ENST00000433702.2	37																																																																																						0.550	LINC00854-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000255889.2			5	6						5	6	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	153994193	153994193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:153994193delG	ENST00000369550.5	+	4	393	c.183delG	c.(181-183)aagfs	p.K61fs	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	61					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTGATAAGCTGAATGTAA	0.413									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(181-183)aafs		dyskeratosis congenita 1, dyskerin							188.0	156.0	167.0					X																	153994193		2203	4300	6503	SO:0001589	frameshift_variant	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994193delG	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.183delG	X.37:g.153994193delG	ENSP00000358563:p.Lys61fs		Somatic					p.K61fs	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	WXS	Illumina GAIIx	Phase_I	O60832	DKC1_HUMAN			4	393	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		61					F5BSB3|O43845|Q96G67|Q9Y505	Frame_Shift_Del	DEL	ENST00000369550.5	37	c.183delG	CCDS14761.1																																																																																				0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		7	223						7	223	---	---	---	---
